P9S (p.Pro9Ser) variant of SRD5A2 (P31213)
P9S (p.Pro9Ser) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- rs868322910
- ClinGen CA45142066
- ClinVar RCV002006403
- TOPMed rs868322910
- Uncertain significance
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 13.90
- PolyPhen-2 0.05
- SIFT 0.86
- ClinVar: Uncertain significance (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available