S27F (p.Ser27Phe) variant of H6PD (O95479)
S27F (p.Ser27Phe) in H6PD (O95479) 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 0.58 / 1. The record also includes population frequency data and structural context.
S27F (p.Ser27Phe) variant details
- p.Ser27Phe
- rs1444732814
- ClinGen CA338187088
- ClinVar RCV002735411
- TOPMed rs1444732814
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.48
- MetaLR 0.49
- MetaSVM 0.07
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available