T65I (p.Thr65Ile) variant of GCK (Hexokinase-4)
T65I (p.Thr65Ile) in GCK (Hexokinase-4) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HHF3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T65I (p.Thr65Ile) variant details
- p.Thr65Ile
- NCI-TCGA Cosmic COSV6175
- cosmic curated COSV61754
- UniProt VAR 078243
- Pathogenic
- in HHF3
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.82
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.19
- EBI: Pathogenic (in HHF3)
- UniProt: Pathogenic (in HHF3)
- Population evidence available
- Structural context available
- Cited in: Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia… (PMID 12941786)
- Cited in: Biochemical basis of glucokinase activation and the regulation by glucokinase regulatory protein in naturally occurring… (PMID 17082186)