N383S (p.Asn383Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
N383S (p.Asn383Ser) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type B; Niemann-Pick. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
N383S (p.Asn383Ser) variant details
- p.Asn383Ser
- rs776442314
- ClinGen CA5852799
- ClinVar RCV001527424
- ClinVar RCV001873722
- Pathogenic/Likely pathogenic
- Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type B; Niemann-Pick
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.89
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)