A18E (p.Ala18Glu) variant of ARID1B (Q8NFD5)
A18E (p.Ala18Glu) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- gnomAD 6-156777733-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available