H124Y (p.His124Tyr) variant of G6PD (P11413)
H124Y (p.His124Tyr) in G6PD (P11413) 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 0.52 / 1. The record also includes population frequency data and structural context.
H124Y (p.His124Tyr) variant details
- p.His124Tyr
- ExAC rs782050457
- gnomAD rs782050457
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.53
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available