H54H (p.His54His) variant of CLCN1 (Chloride channel protein 1)
H54H (p.His54His) in CLCN1 (Chloride channel protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
H54H (p.His54His) variant details
- p.His54His
- rs755776577
- gnomAD 7-143316374-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 5.21
- Population evidence available
- Structural context available
- Literature evidence available