A13V (p.Ala13Val) variant of ARID1B (Q8NFD5)
A13V (p.Ala13Val) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- gnomAD 6-156777718-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available