N10D (p.Asn10Asp) variant of CLCN5 (P51795)
N10D (p.Asn10Asp) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
N10D (p.Asn10Asp) variant details
- p.Asn10Asp
- gnomAD X-50042327-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.19
- MetaLR 0.43
- MetaSVM -0.67
- CADD 18.70
- PolyPhen-2 0.05
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available