M31V (p.Met31Val) variant of CLCN5 (P51795)
M31V (p.Met31Val) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
M31V (p.Met31Val) variant details
- p.Met31Val
- Ensembl rs916340219
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.20
- MetaLR 0.37
- MetaSVM -0.73
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available