N23K (p.Asn23Lys) variant of CLCN5 (P51795)
N23K (p.Asn23Lys) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
N23K (p.Asn23Lys) variant details
- p.Asn23Lys
- gnomAD X-50042368-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.21
- MetaLR 0.51
- MetaSVM -0.40
- CADD 17.20
- PolyPhen-2 0.03
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available