K90T (p.Lys90Thr) variant of GCK (Hexokinase-4)
K90T (p.Lys90Thr) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperinsulinemic hypoglycemia, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
K90T (p.Lys90Thr) variant details
- p.Lys90Thr
- rs2128822695
- ClinGen CA367402900
- ClinVar RCV002221403
- Ensembl rs2128822695
- Likely pathogenic
- Hyperinsulinemic hypoglycemia, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- AlphaMissense 0.21
- MetaLR 0.93
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.18
- EVE 0.11
- ClinVar: Likely pathogenic (Hyperinsulinemic hypoglycemia, familial, 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)