F118L (p.Phe118Leu) variant of SRD5A2 (P31213)
F118L (p.Phe118Leu) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
F118L (p.Phe118Leu) variant details
- p.Phe118Leu
- ExAC rs753942411
- TOPMed rs753942411
- gnomAD rs753942411
- Pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.13
- ClinVar: Pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available