A49T (p.Ala49Thr) variant of SRD5A2 (P31213)
A49T (p.Ala49Thr) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- rs9282858
- ClinGen CA116154
- ClinVar RCV000003511
- ClinVar RCV000083640
- Benign
- not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 20.90
- PolyPhen-2 0.38
- SIFT 0.02
- ClinVar: Benign (not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase defici)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los… (PMID 10501358)
- Cited in: Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. (PMID 10898110)