R50G (p.Arg50Gly) variant of KCNJ11 (Q14654)
R50G (p.Arg50Gly) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
R50G (p.Arg50Gly) variant details
- p.Arg50Gly
- rs1221366142
- ClinGen CA379776373
- ClinVar RCV003062336
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 0.44
- MetaLR 0.94
- MetaSVM 1.09
- SIFT 0.00
- MutPred 0.63
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in PNDM2)
- UniProt: Pathogenic (in PNDM2)
- Structural context available