F60C (p.Phe60Cys) variant of H6PD (O95479)
F60C (p.Phe60Cys) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
F60C (p.Phe60Cys) variant details
- p.Phe60Cys
- TOPMed rs975750869
- gnomAD rs975750869
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.91
- MetaLR 0.96
- MetaSVM 1.10
- CADD 27.60
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available