A378D (p.Ala378Asp) variant of GCK (Hexokinase-4)
A378D (p.Ala378Asp) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.67 / 1. The record also includes published literature and structural context.
A378D (p.Ala378Asp) variant details
- p.Ala378Asp
- rs193929374
- ClinGen CA367398804
- ClinVar RCV003445468
- ClinVar RCV003479526
- Pathogenic
- Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.31
- MetaLR 0.94
- MetaSVM 1.12
- PolyPhen-2 0.74
- SIFT 0.00
- EVE 0.22
- ClinVar: Pathogenic (Maturity-onset diabetes of the young type 2)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)