L89V (p.Leu89Val) variant of SRD5A2 (P31213)
L89V (p.Leu89Val) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L89V (p.Leu89Val) variant details
- p.Leu89Val
- rs2465708158
- ClinGen CA2740092818
- ClinVar RCV003855105
- Likely benign
- not specified; not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- CADD 1.52
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Likely benign (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. (PMID 10898110)
- Cited in: Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. (PMID 12843198)