M8K (p.Met8Lys) variant of CLCN5 (P51795)
M8K (p.Met8Lys) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
M8K (p.Met8Lys) variant details
- p.Met8Lys
- gnomAD X-50042322-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.60
- MetaLR 0.78
- MetaSVM 0.66
- CADD 24.90
- PolyPhen-2 0.77
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available