P59A (p.Pro59Ala) variant of GCK (Hexokinase-4)
P59A (p.Pro59Ala) 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 0.80 / 1. The record also includes structural context.
P59A (p.Pro59Ala) variant details
- p.Pro59Ala
- rs193922287
- ClinGen CA367403309
- ClinVar RCV001837096
- ExAC rs193922287
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- AlphaMissense 0.61
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.44
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available