Q16* (p.Gln16Ter) variant of HSD3B2 (P26439)
Q16* (p.Gln16Ter) in HSD3B2 (P26439) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Q16* (p.Gln16Ter) variant details
- p.Gln16Ter
- gnomAD 1-119415465-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available