A12V (p.Ala12Val) variant of ARID1B (Q8NFD5)
A12V (p.Ala12Val) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- gnomAD 6-156777715-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available