H54Y (p.His54Tyr) variant of CLCN1 (Chloride channel protein 1)
H54Y (p.His54Tyr) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
H54Y (p.His54Tyr) variant details
- p.His54Tyr
- gnomAD 7-143316372-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.07
- CADD 4.38
- PolyPhen-2 0.08
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available