A20S (p.Ala20Ser) variant of ARID1B (Q8NFD5)
A20S (p.Ala20Ser) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD 6-156777738-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available