M31K (p.Met31Lys) variant of CLCN5 (P51795)
M31K (p.Met31Lys) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
M31K (p.Met31Lys) variant details
- p.Met31Lys
- gnomAD X-50042391-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.30
- MetaLR 0.52
- MetaSVM -0.22
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available