T65A (p.Thr65Ala) variant of G6PD (P11413)
T65A (p.Thr65Ala) 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 0.72 / 1. The record also includes published literature and structural context.
T65A (p.Thr65Ala) variant details
- p.Thr65Ala
- rs199474830
- ClinGen CA337318611
- ClinVar RCV000688144
- Ensembl rs199474830
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- AlphaMissense 0.25
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 0.98
- SIFT 0.15
- EVE 0.45
- 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)