P28L (p.Pro28Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
P28L (p.Pro28Leu) 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; not provided; Niemann-Pick disease, type B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- rs556155962
- ClinGen CA5852469
- ClinVar RCV000728133
- ClinVar RCV000915596
- Conflicting interpretations
- Inborn genetic diseases; not provided; Niemann-Pick disease, type B
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.02
- CADD 12.20
- PolyPhen-2 0.04
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Niemann-Pick disease, typ)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:PJL population (allele frequency 0.026)
- 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)