R8L (p.Arg8Leu) variant of KCNJ2 (P63252)
R8L (p.Arg8Leu) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- ESP rs140090605
- ExAC rs140090605
- TOPMed rs140090605
- gnomAD rs140090605
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.21
- MetaLR 0.22
- MetaSVM -0.86
- CADD 27.30
- PolyPhen-2 0.93
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available