D49V (p.Asp49Val) variant of CLCN1 (Chloride channel protein 1)
D49V (p.Asp49Val) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D49V (p.Asp49Val) variant details
- p.Asp49Val
- ExAC rs776644621
- gnomAD rs776644621
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.51
- CADD 21.30
- PolyPhen-2 0.10
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available