D9N (p.Asp9Asn) variant of CLCN5 (P51795)
D9N (p.Asp9Asn) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D9N (p.Asp9Asn) variant details
- p.Asp9Asn
- gnomAD X-50042324-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.30
- MetaLR 0.54
- MetaSVM -0.22
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available