A18V (p.Ala18Val) variant of ARID1B (Q8NFD5)
A18V (p.Ala18Val) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- gnomAD 6-156777733-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available