Y147C (p.Tyr147Cys) variant of G6PD (P11413)
Y147C (p.Tyr147Cys) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
Y147C (p.Tyr147Cys) variant details
- p.Tyr147Cys
- gnomAD rs1557230578
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.94
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available