D49D (p.Asp49Asp) variant of CLCN1 (Chloride channel protein 1)
D49D (p.Asp49Asp) in CLCN1 (Chloride channel protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
D49D (p.Asp49Asp) variant details
- p.Asp49Asp
- rs1586479527
- gnomAD 7-143316359-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0833
- CADD 0.45
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available