V252L (p.Val252Leu) variant of KCNJ11 (Q14654)
V252L (p.Val252Leu) 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 0.67 / 1. The record also includes structural context.
V252L (p.Val252Leu) variant details
- p.Val252Leu
- rs2133379609
- ClinGen CA379770990
- ClinVar RCV002052019
- Ensembl rs2133379609
- Likely pathogenic
- Neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- AlphaMissense 0.51
- MetaLR 0.76
- MetaSVM 0.30
- SIFT 0.04
- MutPred 0.80
- ClinVar: Likely pathogenic (Neonatal diabetes mellitus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available