A12T (p.Ala12Thr) variant of ARID1B (Q8NFD5)
A12T (p.Ala12Thr) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- gnomAD 6-156777714-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available