Y139C (p.Tyr139Cys) variant of G6PD (P11413)
Y139C (p.Tyr139Cys) in G6PD (P11413) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
Y139C (p.Tyr139Cys) variant details
- p.Tyr139Cys
- rs1557230587
- Ensembl rs1557230587
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 0.89
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available