L58F (p.Leu58Phe) variant of HSD3B2 (P26439)
L58F (p.Leu58Phe) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L58F (p.Leu58Phe) variant details
- p.Leu58Phe
- TOPMed rs996018890
- gnomAD rs996018890
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.19
- MetaLR 0.28
- MetaSVM -0.82
- CADD 9.25
- PolyPhen-2 0.14
- SIFT 0.69
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available