D9G (p.Asp9Gly) variant of CLCN5 (P51795)
D9G (p.Asp9Gly) 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.
D9G (p.Asp9Gly) variant details
- p.Asp9Gly
- gnomAD X-50042325-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.43
- MetaLR 0.58
- MetaSVM -0.01
- CADD 23.90
- PolyPhen-2 0.06
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available