A384V (p.Ala384Val) variant of GCK (Hexokinase-4)
A384V (p.Ala384Val) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A384V (p.Ala384Val) variant details
- p.Ala384Val
- rs1583591747
- ClinGen CA367398721
- cosmic curated COSV99789
- ClinVar RCV000992038
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.90
- CADD 31.00
- PolyPhen-2 0.71
- SIFT 0.06
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Likely pathogenic (in MODY2)
- UniProt: Likely pathogenic (in MODY2)
- Population evidence available
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)