N23D (p.Asn23Asp) variant of CLCN5 (P51795)
N23D (p.Asn23Asp) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N23D (p.Asn23Asp) variant details
- p.Asn23Asp
- gnomAD X-50042366-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.33
- MetaLR 0.54
- MetaSVM -0.16
- CADD 21.20
- PolyPhen-2 0.03
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available