A3E (p.Ala3Glu) variant of ARID1A (O14497)
A3E (p.Ala3Glu) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- gnomAD 1-26696411-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.09
- CADD 23.20
- PolyPhen-2 0.24
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available