R6L (p.Arg6Leu) variant of KCNQ2 (O43526)
R6L (p.Arg6Leu) in KCNQ2 (O43526) 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 0.53 / 1. The record also includes population frequency data and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- Ensembl rs866843916
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.34
- AlphaMissense 0.30
- MetaLR 0.93
- MetaSVM 0.93
- CADD 19.10
- PolyPhen-2 0.88
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available