Q13H (p.Gln13His) variant of CLCN1 (Chloride channel protein 1)
Q13H (p.Gln13His) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q13H (p.Gln13His) variant details
- p.Gln13His
- rs1334449555
- gnomAD 7-143316250-AAAGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 27.90
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available