S12R (p.Ser12Arg) variant of ARID1A (O14497)
S12R (p.Ser12Arg) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- TOPMed rs2080253464
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.08
- MetaLR 0.01
- MetaSVM -0.83
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available