R5L (p.Arg5Leu) variant of CLCN1 (Chloride channel protein 1)
R5L (p.Arg5Leu) 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 0.16 / 1. The record also includes population frequency data and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- NCI-TCGA TCGA novel
- 1000Genomes rs201327261
- ExAC rs201327261
- TOPMed rs201327261
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.21
- CADD 4.58
- PolyPhen-2 0.00
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available