A65T (p.Ala65Thr) variant of SRD5A2 (P31213)
A65T (p.Ala65Thr) 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 0.28 / 1. The record also includes population frequency data.
A65T (p.Ala65Thr) variant details
- p.Ala65Thr
- rs1186430097
- NCI-TCGA Cosmic COSV5187
- TOPMed rs1186430097
- gnomAD rs1186430097
- Pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 14.60
- PolyPhen-2 0.18
- SIFT 0.25
- ClinVar: Pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)