S373N (p.Ser373Asn) variant of CYP21A2 (Steroid 21-hydroxylase)
S373N (p.Ser373Asn) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
S373N (p.Ser373Asn) variant details
- p.Ser373Asn
- rs1554305880
- ClinGen CA363511197
- ClinVar RCV000516282
- Ensembl rs1554305880
- Pathogenic/Likely pathogenic
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- AlphaMissense 0.28
- MetaLR 0.26
- MetaSVM -0.61
- PolyPhen-2 0.99
- SIFT 0.02
- MutPred 0.46
- ClinVar: Pathogenic/Likely pathogenic (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. (PMID 20301350)
- Cited in: Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice… (PMID 30272171)