L22F (p.Leu22Phe) variant of HSD3B2 (P26439)
L22F (p.Leu22Phe) in HSD3B2 (P26439) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- rs1266831898
- gnomAD 1-119415482-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 15.60
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Literature evidence available