P373S (p.Pro373Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
P373S (p.Pro373Ser) 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 not provided; Niemann-Pick disease, type A; Niemann-Pick disease, type B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P373S (p.Pro373Ser) variant details
- p.Pro373Ser
- rs1342372980
- ClinGen CA379372866
- cosmic curated COSV10459
- ClinVar RCV000594397
- Pathogenic/Likely pathogenic
- not provided; Niemann-Pick disease, type A; Niemann-Pick disease, type B
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.64
- CADD 23.60
- PolyPhen-2 0.49
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (not provided; Niemann-Pick disease, type A; Niemann-Pick disease)
- 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: Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. (PMID 12556236)
- Cited in: Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in… (PMID 22818240)