Q50* (p.Gln50Ter) variant of HSD3B2 (P26439)
Q50* (p.Gln50Ter) in HSD3B2 (P26439) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q50* (p.Gln50Ter) variant details
- p.Gln50Ter
- gnomAD 1-119419423-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 33.00
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available