S11C (p.Ser11Cys) variant of ARID1A (O14497)
S11C (p.Ser11Cys) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S11C (p.Ser11Cys) variant details
- p.Ser11Cys
- gnomAD 1-26696434-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -0.70
- CADD 23.80
- PolyPhen-2 0.43
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available