R43K (p.Arg43Lys) variant of CLCN5 (P51795)
R43K (p.Arg43Lys) 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 and structural context.
R43K (p.Arg43Lys) variant details
- p.Arg43Lys
- TOPMed rs1335063795
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.21
- MetaLR 0.46
- MetaSVM -0.40
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.23
- Population evidence available
- Structural context available