R63L (p.Arg63Leu) variant of GCK (Hexokinase-4)
R63L (p.Arg63Leu) 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 0.68 / 1. The record also includes structural context.
R63L (p.Arg63Leu) variant details
- p.Arg63Leu
- rs746444094
- ClinGen CA367403268
- ClinVar RCV002022599
- ExAC rs746444094
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- AlphaMissense 0.19
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available