N10K (p.Asn10Lys) variant of CLCN5 (P51795)
N10K (p.Asn10Lys) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N10K (p.Asn10Lys) variant details
- p.Asn10Lys
- gnomAD X-50042329-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.23
- MetaLR 0.45
- MetaSVM -0.66
- CADD 17.90
- PolyPhen-2 0.05
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available