A12E (p.Ala12Glu) variant of ARID1B (Q8NFD5)
A12E (p.Ala12Glu) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A12E (p.Ala12Glu) variant details
- p.Ala12Glu
- gnomAD 6-156777715-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available