T56P (p.Thr56Pro) variant of HSD3B2 (P26439)
T56P (p.Thr56Pro) in HSD3B2 (P26439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
T56P (p.Thr56Pro) variant details
- p.Thr56Pro
- gnomAD 1-119419441-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.62
- MetaLR 0.78
- MetaSVM 0.34
- CADD 23.80
- PolyPhen-2 0.95
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available