P533Q (p.Pro533Gln) variant of SMPD1 (Sphingomyelin phosphodiesterase)
P533Q (p.Pro533Gln) 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 Niemann-Pick disease, type A; Niemann-Pick disease, type B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
P533Q (p.Pro533Gln) variant details
- p.Pro533Gln
- rs199915216
- ClinGen CA5852944
- cosmic curated COSV10019
- ClinVar RCV001527432
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.79
- CADD 23.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00062)
- 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)