C72Y (p.Cys72Tyr) variant of HSD3B2 (P26439)
C72Y (p.Cys72Tyr) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
C72Y (p.Cys72Tyr) variant details
- p.Cys72Tyr
- ExAC rs747237944
- TOPMed rs747237944
- gnomAD rs747237944
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.79
- AlphaMissense 0.80
- MetaLR 0.82
- MetaSVM 0.88
- CADD 23.60
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available