A6S (p.Ala6Ser) variant of ARID1A (O14497)
A6S (p.Ala6Ser) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- gnomAD 1-26696419-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.87
- CADD 23.00
- PolyPhen-2 0.19
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available