Q56R (p.Gln56Arg) variant of SRD5A2 (P31213)
Q56R (p.Gln56Arg) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Q56R (p.Gln56Arg) variant details
- p.Gln56Arg
- rs1357268588
- ClinGen CA346598980
- ClinVar RCV003501686
- ClinVar RCV004701727
- Conflicting interpretations
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 24.40
- PolyPhen-2 0.62
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; not spec)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available