E23D (p.Glu23Asp) variant of ARID1A (O14497)
E23D (p.Glu23Asp) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- gnomAD 1-26696472-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.12
- MetaLR 0.02
- MetaSVM -0.91
- CADD 23.40
- PolyPhen-2 0.33
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available