R3S (p.Arg3Ser) variant of CHD2 (O14647)
R3S (p.Arg3Ser) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- gnomAD 15-92904925-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- CADD 15.60
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available