A378P (p.Ala378Pro) variant of GCK (Hexokinase-4)
A378P (p.Ala378Pro) 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 0.88 / 1. The record also includes population frequency data and structural context.
A378P (p.Ala378Pro) variant details
- p.Ala378Pro
- rs104894016
- ClinGen CA367398808
- ClinVar RCV003397220
- ClinVar RCV005104286
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.94
- CADD 29.40
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available