T8P (p.Thr8Pro) variant of HSD3B2 (P26439)
T8P (p.Thr8Pro) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
T8P (p.Thr8Pro) variant details
- p.Thr8Pro
- TOPMed rs1651676376
- gnomAD rs1651676376
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.84
- AlphaMissense 0.72
- MetaLR 0.93
- MetaSVM 1.04
- CADD 25.10
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available