H54N (p.His54Asn) variant of CLCN1 (Chloride channel protein 1)
H54N (p.His54Asn) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
H54N (p.His54Asn) variant details
- p.His54Asn
- gnomAD 7-143316372-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.07
- CADD 7.47
- PolyPhen-2 0.00
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available