G16V (p.Gly16Val) variant of CLCN5 (P51795)
G16V (p.Gly16Val) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- gnomAD X-50042346-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.33
- MetaLR 0.58
- MetaSVM 0.02
- CADD 21.80
- PolyPhen-2 0.43
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available