S59G (p.Ser59Gly) variant of H6PD (O95479)
S59G (p.Ser59Gly) in H6PD (O95479) is a missense change. Clinical records from ClinVar, EBI, 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 0.61 / 1. The record also includes population frequency data and structural context.
S59G (p.Ser59Gly) variant details
- p.Ser59Gly
- ExAC rs749851354
- TOPMed rs749851354
- gnomAD rs749851354
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.42
- MetaLR 0.88
- MetaSVM 0.64
- CADD 20.70
- PolyPhen-2 0.34
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available