D49M (p.Asp49Met) variant of CLCN1 (Chloride channel protein 1)
D49M (p.Asp49Met) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D49M (p.Asp49Met) variant details
- p.Asp49Met
- gnomAD 7-143316355-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.349
- CADD 24.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available