L164P (p.Leu164Pro) variant of GCK (Hexokinase-4)
L164P (p.Leu164Pro) 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; Maturity-onset diabetes of the youn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
L164P (p.Leu164Pro) variant details
- p.Leu164Pro
- rs2096278847
- ClinGen CA367401792
- ClinVar RCV001293474
- ClinVar RCV001871744
- Uncertain significance
- Maturity-onset diabetes of the young type 2; Maturity-onset diabetes of the youn
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young type 2)
- EBI: Pathogenic (in MODY2 and PNDM1)
- UniProt: Pathogenic (in MODY2 and PNDM1)
- Structural context available
- Cited in: Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus. (PMID 11106831)
- Cited in: Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated… (PMID 25015100)