G73S (p.Gly73Ser) variant of H6PD (O95479)
G73S (p.Gly73Ser) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
G73S (p.Gly73Ser) variant details
- p.Gly73Ser
- TOPMed rs906651065
- gnomAD rs906651065
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.69
- AlphaMissense 0.15
- MetaLR 0.94
- MetaSVM 1.08
- CADD 27.40
- PolyPhen-2 1.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available