L55P (p.Leu55Pro) variant of SRD5A2 (P31213)
L55P (p.Leu55Pro) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L55P (p.Leu55Pro) variant details
- p.Leu55Pro
- rs121434245
- ClinGen CA346598986
- ClinVar RCV001270011
- ClinVar RCV002272440
- Pathogenic/Likely pathogenic
- not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase defici)
- EBI: Pathogenic (in PPSH)
- UniProt: Pathogenic (in PPSH)
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available