G12V (p.Gly12Val) variant of CLCN5 (P51795)
G12V (p.Gly12Val) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- gnomAD X-50042334-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.56
- MetaLR 0.84
- MetaSVM 0.88
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available