G72E (p.Gly72Glu) variant of GCK (Hexokinase-4)
G72E (p.Gly72Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
G72E (p.Gly72Glu) variant details
- p.Gly72Glu
- rs2128822720
- ClinGen CA367403110
- ClinVar RCV001822813
- Ensembl rs2128822720
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance (in MODY2 and PNDM1)
- UniProt: Uncertain significance (in MODY2 and PNDM1)
- Structural context available