A9V (p.Ala9Val) variant of ARID1B (Q8NFD5)
A9V (p.Ala9Val) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- gnomAD 6-156777706-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available