G11D (p.Gly11Asp) variant of CLCN1 (Chloride channel protein 1)
G11D (p.Gly11Asp) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G11D (p.Gly11Asp) variant details
- p.Gly11Asp
- TOPMed rs1563071875
- gnomAD rs1563071875
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.21
- CADD 9.71
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available