K48K (p.Lys48Lys) variant of CLCN1 (Chloride channel protein 1)
K48K (p.Lys48Lys) in CLCN1 (Chloride channel protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K48K (p.Lys48Lys) variant details
- p.Lys48Lys
- rs560922211
- gnomAD 7-143316356-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 6.57
- Population evidence available
- Structural context available
- Literature evidence available