A12S (p.Ala12Ser) variant of ARID1B (Q8NFD5)
A12S (p.Ala12Ser) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- gnomAD 6-156777714-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available