R63H (p.Arg63His) variant of GCK (Hexokinase-4)
R63H (p.Arg63His) 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 0.78 / 1. The record also includes population frequency data and structural context.
R63H (p.Arg63His) variant details
- p.Arg63His
- rs746444094
- ClinGen CA4239706
- NCI-TCGA Cosmic COSV6175
- cosmic curated COSV61752
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.84
- AlphaMissense 0.19
- MetaLR 0.95
- MetaSVM 1.07
- CADD 24.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available