D30Y (p.Asp30Tyr) variant of G6PD (P11413)
D30Y (p.Asp30Tyr) in G6PD (P11413) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
D30Y (p.Asp30Tyr) variant details
- p.Asp30Tyr
- rs367607992
- ClinGen CA415202058
- ClinVar RCV001169145
- Ensembl rs367607992
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- AlphaMissense 0.12
- MetaLR 0.88
- MetaSVM 0.88
- PolyPhen-2 0.00
- SIFT 0.18
- EVE 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)