M25V (p.Met25Val) variant of CLCN1 (Chloride channel protein 1)
M25V (p.Met25Val) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
M25V (p.Met25Val) variant details
- p.Met25Val
- gnomAD rs1300860950
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.14
- CADD 5.59
- PolyPhen-2 0.00
- SIFT 0.95
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available