Y61N (p.Tyr61Asn) variant of GCK (Hexokinase-4)
Y61N (p.Tyr61Asn) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
Y61N (p.Tyr61Asn) variant details
- p.Tyr61Asn
- rs2128823113
- ClinGen CA367403298
- ClinVar RCV001955981
- Ensembl rs2128823113
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- AlphaMissense 0.89
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in MODY2)
- UniProt: Uncertain significance (in MODY2)
- Structural context available