H230P (p.His230Pro) variant of SRD5A2 (P31213)
H230P (p.His230Pro) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.50 / 1. The record also includes population frequency data and structural context.
H230P (p.His230Pro) variant details
- p.His230Pro
- rs1477486919
- ClinGen CA346597863
- ClinVar RCV003501684
- gnomAD rs1477486919
- Pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 27.20
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available