S54N (p.Ser54Asn) variant of GCK (Hexokinase-4)
S54N (p.Ser54Asn) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar 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 0.44 / 1. The record also includes population frequency data and structural context.
S54N (p.Ser54Asn) variant details
- p.Ser54Asn
- TOPMed rs1386137950
- gnomAD rs1386137950
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.42
- AlphaMissense 0.99
- MetaLR 0.11
- MetaSVM -0.98
- CADD 21.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available