S8R (p.Ser8Arg) variant of CHD2 (O14647)
S8R (p.Ser8Arg) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S8R (p.Ser8Arg) variant details
- p.Ser8Arg
- gnomAD 15-92901261-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.34
- MetaLR 0.51
- MetaSVM -0.18
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available