G410V (p.Gly410Val) variant of GCK (Hexokinase-4)
G410V (p.Gly410Val) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic/likely risk allele in the context of Maturity-onset diabetes of the young; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G410V (p.Gly410Val) variant details
- p.Gly410Val
- rs1554334546
- ClinGen CA367398308
- ClinVar RCV002463834
- ClinVar RCV004721073
- Likely pathogenic/Likely risk allele
- Maturity-onset diabetes of the young; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.99
- CADD 29.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic/Likely risk allele (Maturity-onset diabetes of the young; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)