A11T (p.Ala11Thr) variant of GCK (Hexokinase-4)
A11T (p.Ala11Thr) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- rs116093166
- ClinGen CA152952
- cosmic curated COSV67883
- ClinVar RCV000117128
- Benign
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.31
- CADD 4.69
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Benign (Monogenic diabetes)
- EBI: Benign (in dbSNP:rs116093166)
- UniProt: Benign (in dbSNP:rs116093166)
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available
- Cited in: Glucokinase gene variants in the common form of NIDDM. (PMID 8454109)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)