D29N (p.Asp29Asn) variant of CLCN5 (P51795)
D29N (p.Asp29Asn) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
D29N (p.Asp29Asn) variant details
- p.Asp29Asn
- gnomAD X-50042384-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.41
- MetaLR 0.59
- MetaSVM 0.03
- CADD 23.80
- PolyPhen-2 0.40
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available