M3V (p.Met3Val) variant of CLCN5 (P51795)
M3V (p.Met3Val) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
M3V (p.Met3Val) variant details
- p.Met3Val
- ExAC rs782073023
- gnomAD rs782073023
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.29
- MetaLR 0.50
- MetaSVM -0.29
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the African/African-American population (allele frequency 7.6e-05)
- Structural context available