p.Gln3 Ser4del variant of CLCN1 (Chloride channel protein 1)
p.Gln3 Ser4del in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gln3 Ser4del variant details
- rs748679335
- gnomAD 7-143316218-GCAAT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.246
- CADD 12.30
- Population evidence available
- Structural context available
- Literature evidence available