N193S (p.Asn193Ser) variant of SRD5A2 (P31213)
N193S (p.Asn193Ser) 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.
N193S (p.Asn193Ser) variant details
- p.Asn193Ser
- rs763296857
- ClinGen CA1599888
- ClinVar RCV000534325
- ClinVar RCV001269600
- Pathogenic/Likely pathogenic
- not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.89
- ClinVar: Pathogenic/Likely pathogenic (not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase defici)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available