G289V (p.Gly289Val) variant of KCNJ11 (Q14654)
G289V (p.Gly289Val) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperinsulinemic hypoglycemia, familial, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G289V (p.Gly289Val) variant details
- p.Gly289Val
- rs797045637
- ClinGen CA277326
- cosmic curated COSV60594
- ClinVar RCV000194466
- Likely pathogenic
- Hyperinsulinemic hypoglycemia, familial, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 0.91
- MetaLR 0.90
- MetaSVM 0.99
- SIFT 0.00
- MutPred 0.92
- ClinVar: Likely pathogenic (Hyperinsulinemic hypoglycemia, familial, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)