Q19R (p.Gln19Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
Q19R (p.Gln19Arg) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Niemann-Pick disease, type B; Niemann-Pick disease, typ. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
Q19R (p.Gln19Arg) variant details
- p.Gln19Arg
- rs144465428
- ClinGen CA5852460
- ClinVar RCV000730126
- ClinVar RCV002485872
- Conflicting interpretations
- Inborn genetic diseases; Niemann-Pick disease, type B; Niemann-Pick disease, typ
- Missense
- Variant Prioritization Score for Impact Estimate 0.068
- REVEL 0.02
- CADD 9.31
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Niemann-Pick disease, type B; Niemann-P)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0049)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)