S65L (p.Ser65Leu) variant of HSD17B3 (P37058)
S65L (p.Ser65Leu) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S65L (p.Ser65Leu) variant details
- p.Ser65Leu
- rs747329682
- ClinGen CA351299
- NCI-TCGA Cosmic COSV6455
- cosmic curated COSV64556
- Pathogenic/Likely pathogenic
- not provided; Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.56
- MetaLR 0.58
- MetaSVM -0.06
- CADD 22.50
- PolyPhen-2 0.30
- SIFT 0.08
- ClinVar: Pathogenic/Likely pathogenic (not provided; Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Pathogenic (in MPH)
- UniProt: Pathogenic (in MPH)
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)