S17R (p.Ser17Arg) variant of CHD2 (O14647)
S17R (p.Ser17Arg) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S17R (p.Ser17Arg) variant details
- p.Ser17Arg
- gnomAD 15-92901288-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.40
- MetaLR 0.75
- MetaSVM 0.48
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available