R43P (p.Arg43Pro) variant of GCK (Hexokinase-4)
R43P (p.Arg43Pro) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
R43P (p.Arg43Pro) variant details
- p.Arg43Pro
- rs764232985
- ClinGen CA367403448
- ClinVar RCV000711764
- ExAC rs764232985
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- AlphaMissense 0.15
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.19
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Structural context available