M41T (p.Met41Thr) variant of GCK (Hexokinase-4)
M41T (p.Met41Thr) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Monogenic diabetes; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
M41T (p.Met41Thr) variant details
- p.Met41Thr
- rs1057524906
- ClinGen CA16609270
- ClinVar RCV000445500
- ClinVar RCV000992041
- Conflicting interpretations
- Monogenic diabetes; not provided
- 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: Conflicting classifications of pathogenicity (Monogenic diabetes; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available