G20R (p.Gly20Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G20R (p.Gly20Arg) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type B; Niemann-Pick disease, type A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- rs538153468
- ClinGen CA5852461
- ClinVar RCV000729102
- ClinVar RCV002535106
- Uncertain significance
- Niemann-Pick disease, type B; Niemann-Pick disease, type A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.04
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.70
- ClinVar: Uncertain significance (Niemann-Pick disease, type B; Niemann-Pick disease, type A; not)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- 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)