V205E (p.Val205Glu) variant of HSD17B3 (P37058)
V205E (p.Val205Glu) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Testosterone 17-beta-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V205E (p.Val205Glu) variant details
- p.Val205Glu
- rs372027264
- ClinGen CA5140324
- ClinVar RCV000582417
- ClinVar RCV001821705
- Pathogenic/Likely pathogenic
- not provided; Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.69
- MetaLR 0.85
- MetaSVM 0.38
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Pathogenic (in MPH)
- UniProt: Pathogenic (in MPH)
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PMID 8550739)
- Cited in: Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PMID 11158067)