Y70C (p.Tyr70Cys) variant of G6PD (P11413)
Y70C (p.Tyr70Cys) in G6PD (P11413) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CNSHA1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Y70C (p.Tyr70Cys) variant details
- p.Tyr70Cys
- rs782090947
- ClinGen CA10566301
- ClinVar RCV000521290
- ClinVar RCV001857951
- Pathogenic
- in CNSHA1
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.82
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)