D27N (p.Asp27Asn) variant of CLCN5 (P51795)
D27N (p.Asp27Asn) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
D27N (p.Asp27Asn) variant details
- p.Asp27Asn
- gnomAD X-50042378-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.52
- MetaLR 0.81
- MetaSVM 0.62
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available