R43G (p.Arg43Gly) variant of CLCN5 (P51795)
R43G (p.Arg43Gly) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R43G (p.Arg43Gly) variant details
- p.Arg43Gly
- gnomAD X-50042426-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.21
- MetaLR 0.54
- MetaSVM -0.18
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available