N385S (p.Asn385Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
N385S (p.Asn385Ser) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
N385S (p.Asn385Ser) variant details
- p.Asn385Ser
- rs120074123
- ClinGen CA252519
- ClinVar RCV000003122
- ClinVar RCV001248870
- Likely pathogenic
- Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type B; Niemann-Pick
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.84
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B… (PMID 1301192)
- Cited in: Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B… (PMID 1618760)