A18S (p.Ala18Ser) variant of ARID1B (Q8NFD5)
A18S (p.Ala18Ser) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 6-156777732-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available