H65H (p.His65His) variant of CLCN1 (Chloride channel protein 1)
H65H (p.His65His) in CLCN1 (Chloride channel protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
H65H (p.His65His) variant details
- p.His65His
- rs369579634
- gnomAD 7-143319769-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 7.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available