From: MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing
Data set | Proportion of SAVs in data set (predicted SAVs/total variants) | |||
---|---|---|---|---|
Missense | Same-sense | Nonsense | Total | |
Inherited disease | 11.0% (5,193/47,228) | 90.3% (468/518) | 30.5% (4,130/13,559) | 16.0% (9,791/61,305) |
Cancer | 9.2% (32,056/347,380) | 8.6% (9,010/105,094) | 32.4% (9,141/28,256) | 10.4% (50,207/480,730) |
1000 Genomes | 6.8% (7,016/103,445) | 6.7% (5,968/89,396) | 19.5% (273/1,400) | 6.8% (13,257/194,241) |