S232L (p.Ser232Leu) variant of HSD17B3 (P37058)
S232L (p.Ser232Leu) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Testosterone 17-beta-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S232L (p.Ser232Leu) variant details
- p.Ser232Leu
- rs28939085
- ClinGen CA117110
- ClinVar RCV000005148
- ClinVar RCV002512796
- Pathogenic
- not provided; Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.79
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Pathogenic (in MPH)
- UniProt: Pathogenic (in MPH)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. (PMID 8075637)
- Cited in: Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PMID 11158067)