A14E (p.Ala14Glu) variant of ARID1B (Q8NFD5)
A14E (p.Ala14Glu) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A14E (p.Ala14Glu) variant details
- p.Ala14Glu
- gnomAD 6-156777721-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available