D45G (p.Asp45Gly) variant of CLCN5 (P51795)
D45G (p.Asp45Gly) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
D45G (p.Asp45Gly) variant details
- p.Asp45Gly
- gnomAD X-50042433-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.49
- MetaLR 0.81
- MetaSVM 0.67
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available