A248D (p.Ala248Asp) variant of SRD5A2 (P31213)
A248D (p.Ala248Asp) 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 0.41 / 1. The record also includes population frequency data and structural context.
A248D (p.Ala248Asp) variant details
- p.Ala248Asp
- rs2465619349
- ClinGen CA346597727
- ClinVar RCV003459925
- Pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 25.50
- PolyPhen-2 0.96
- SIFT 0.07
- ClinVar: Pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available