A51T (p.Ala51Thr) variant of SRD5A2 (P31213)
A51T (p.Ala51Thr) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A51T (p.Ala51Thr) variant details
- p.Ala51Thr
- rs61748123
- ClinGen CA224884
- ClinVar RCV000083641
- ClinVar RCV004767064
- Conflicting interpretations
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- CADD 10.10
- PolyPhen-2 0.08
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. (PMID 10898110)