A5V (p.Ala5Val) variant of ARID1B (Q8NFD5)
A5V (p.Ala5Val) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- gnomAD rs1778712629
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available