T65N (p.Thr65Asn) variant of G6PD (P11413)
T65N (p.Thr65Asn) 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 0.88 / 1. The record also includes structural context.
T65N (p.Thr65Asn) variant details
- p.Thr65Asn
- rs2148331926
- ClinGen CA415239864
- ClinVar RCV002274637
- Ensembl rs2148331926
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.72
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.72
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available