N130S (p.Asn130Ser) variant of HSD17B3 (P37058)
N130S (p.Asn130Ser) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
N130S (p.Asn130Ser) variant details
- p.Asn130Ser
- rs119481079
- ClinGen CA117116
- ClinVar RCV000005156
- ClinVar RCV001818138
- Pathogenic/Likely pathogenic
- not provided; Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.87
- MetaLR 0.87
- MetaSVM 1.05
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (not provided; Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Pathogenic (in MPH)
- UniProt: Pathogenic (in MPH)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene… (PMID 9709959)
- Cited in: Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PMID 11158067)