A10T (p.Ala10Thr) variant of GCK (Hexokinase-4)
A10T (p.Ala10Thr) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Maturity-onset diabetes of the young type 2; Hyperinsulinemic hypoglycemia, fami. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- rs1265357992
- ClinGen CA367358129
- NCI-TCGA Cosmic COSV6788
- cosmic curated COSV67885
- Uncertain significance
- Maturity-onset diabetes of the young type 2; Hyperinsulinemic hypoglycemia, fami
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 1.86
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young type 2; Hyperinsulinemic hy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)