Q38L (p.Gln38Leu) variant of GCK (Hexokinase-4)
Q38L (p.Gln38Leu) 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 0.79 / 1. The record also includes structural context.
Q38L (p.Gln38Leu) variant details
- p.Gln38Leu
- rs1064794268
- cosmic curated COSV10817
- ClinGen CA367403522
- ClinVar RCV003494025
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.92
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.04
- EVE 0.27
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available