H129Y (p.His129Tyr) variant of G6PD (P11413)
H129Y (p.His129Tyr) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
H129Y (p.His129Tyr) variant details
- p.His129Tyr
- gnomAD rs2070394247
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.42
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available