F60Y (p.Phe60Tyr) variant of H6PD (O95479)
F60Y (p.Phe60Tyr) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
F60Y (p.Phe60Tyr) variant details
- p.Phe60Tyr
- TOPMed rs975750869
- gnomAD rs975750869
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.75
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.00
- SIFT 0.00
- Most common in the Amish population (allele frequency 0.0011)
- Structural context available