G6D (p.Gly6Asp) variant of CLCN5 (P51795)
G6D (p.Gly6Asp) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G6D (p.Gly6Asp) variant details
- p.Gly6Asp
- TOPMed rs1932249929
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.46
- MetaLR 0.75
- MetaSVM 0.53
- CADD 24.70
- PolyPhen-2 0.97
- SIFT 0.05
- Population evidence available
- Structural context available