F38S (p.Phe38Ser) variant of HSD3B2 (P26439)
F38S (p.Phe38Ser) in HSD3B2 (P26439) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
F38S (p.Phe38Ser) variant details
- p.Phe38Ser
- gnomAD 1-119415528-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 16.10
- Population evidence available
- Structural context available
- Literature evidence available