L55Q (p.Leu55Gln) variant of SRD5A2 (P31213)
L55Q (p.Leu55Gln) 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; Urogenital tract malformation; 3-Oxo-5 alpha-steroid delta 4-dehyd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L55Q (p.Leu55Gln) variant details
- p.Leu55Gln
- rs121434245
- ClinGen CA340068
- ClinVar RCV000003503
- ClinVar RCV001269601
- Pathogenic/Likely pathogenic
- not provided; Urogenital tract malformation; 3-Oxo-5 alpha-steroid delta 4-dehyd
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 25.00
- PolyPhen-2 0.48
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; Urogenital tract malformation; 3-Oxo-5 alpha-stero)
- EBI: Pathogenic (in PPSH)
- UniProt: Pathogenic (in PPSH)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2… (PMID 8768837)
- Cited in: Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. (PMID 10718838)