M34I (p.Met34Ile) variant of GCK (Hexokinase-4)
M34I (p.Met34Ile) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Maturity-onset diabetes of the young type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
M34I (p.Met34Ile) variant details
- p.Met34Ile
- rs2096283252
- ClinGen CA367403586
- ClinVar RCV002227430
- ClinVar RCV004729107
- Conflicting interpretations
- not provided; Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- AlphaMissense 0.86
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.16
- EVE 0.15
- ClinVar: Conflicting classifications of pathogenicity (not provided; Maturity-onset diabetes of the young type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)