P477Q (p.Pro477Gln) variant of SMPD1 (Sphingomyelin phosphodiesterase)
P477Q (p.Pro477Gln) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Niemann-Pick disease, type A; Niemann-Pick disease, type B; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P477Q (p.Pro477Gln) variant details
- p.Pro477Gln
- rs753508874
- ClinGen CA379375293
- ClinVar RCV001980495
- ClinVar RCV004729017
- Conflicting interpretations
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.90
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Niemann-Pick disease, type A; Niemann-Pick disease, type B; not)
- EBI: Pathogenic (in NPDA and NPDB)
- UniProt: Pathogenic (in NPDA and NPDB)
- Most common in the African/African-American population (allele frequency 4.8e-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)