P181L (p.Pro181Leu) variant of SRD5A2 (P31213)
P181L (p.Pro181Leu) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
P181L (p.Pro181Leu) variant details
- p.Pro181Leu
- rs1057517829
- ClinGen CA16042440
- ClinVar RCV000413891
- ClinVar RCV003500527
- Pathogenic
- not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.12
- ClinVar: Pathogenic (not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase defici)
- EBI: Pathogenic (in PPSH)
- UniProt: Pathogenic (in PPSH)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. (PMID 16181229)
- Cited in: Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. (PMID 10718838)