M42V (p.Met42Val) variant of CLCN5 (P51795)
M42V (p.Met42Val) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
M42V (p.Met42Val) variant details
- p.Met42Val
- gnomAD X-50042423-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.21
- MetaLR 0.50
- MetaSVM -0.42
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available