G334V (p.Gly334Val) variant of KCNJ11 (Q14654)
G334V (p.Gly334Val) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neonatal diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
G334V (p.Gly334Val) variant details
- p.Gly334Val
- rs193929358
- ClinGen CA379769450
- ClinVar RCV002052020
- Ensembl rs193929358
- Likely pathogenic
- Neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- AlphaMissense 0.96
- MetaLR 0.71
- MetaSVM 0.54
- SIFT 0.21
- MutPred 0.54
- ClinVar: Likely pathogenic (Neonatal diabetes mellitus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available