R50S (p.Arg50Ser) variant of KCNJ5 (P48544)
R50S (p.Arg50Ser) in KCNJ5 (P48544) 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 0.67 / 1. The record also includes structural context.
R50S (p.Arg50Ser) variant details
- p.Arg50Ser
- rs781011854
- ClinGen CA383246177
- ClinVar RCV004520976
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- AlphaMissense 0.28
- MetaLR 0.77
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available