S12G (p.Ser12Gly) variant of ARID1A (O14497)
S12G (p.Ser12Gly) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S12G (p.Ser12Gly) variant details
- p.Ser12Gly
- TOPMed rs2080253464
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.13
- MetaLR 0.01
- MetaSVM -0.88
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available