E2A (p.Glu2Ala) variant of CLCN1 (Chloride channel protein 1)
E2A (p.Glu2Ala) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E2A (p.Glu2Ala) variant details
- p.Glu2Ala
- gnomAD 7-143316217-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.30
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available