M41R (p.Met41Arg) variant of GCK (Hexokinase-4)
M41R (p.Met41Arg) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Maturity-onset diabetes of the young type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
M41R (p.Met41Arg) variant details
- p.Met41Arg
- rs1057524906
- ClinGen CA367403469
- ClinVar RCV002285551
- Likely pathogenic
- Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)