G16R (p.Gly16Arg) variant of CLCN5 (P51795)
G16R (p.Gly16Arg) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- gnomAD X-50042345-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.40
- MetaLR 0.46
- MetaSVM -0.28
- CADD 22.50
- PolyPhen-2 0.28
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available