G57S (p.Gly57Ser) variant of H6PD (O95479)
G57S (p.Gly57Ser) in H6PD (O95479) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G57S (p.Gly57Ser) variant details
- p.Gly57Ser
- TOPMed rs749808170
- gnomAD rs749808170
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.18
- MetaLR 0.19
- MetaSVM -0.90
- CADD 22.90
- PolyPhen-2 0.48
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available