N100S (p.Asn100Ser) variant of HSD3B2 (P26439)
N100S (p.Asn100Ser) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Congenital adrenal hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
N100S (p.Asn100Ser) variant details
- p.Asn100Ser
- rs1388517943
- ClinGen CA341395494
- ClinVar RCV001949319
- ClinVar RCV005432872
- Pathogenic
- not provided; Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.83
- MetaLR 0.92
- MetaSVM 1.03
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Congenital adrenal hyperplasia)
- EBI: Pathogenic (in AH2)
- UniProt: Pathogenic (in AH2)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight… (PMID 10599696)
- Cited in: Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3… (PMID 7608265)