S47S (p.Ser47Ser) variant of HSD3B2 (P26439)
S47S (p.Ser47Ser) in HSD3B2 (P26439) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S47S (p.Ser47Ser) variant details
- p.Ser47Ser
- gnomAD 1-119415560-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.39
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available