E18* (p.Glu18Ter) variant of SMPD1 (Sphingomyelin phosphodiesterase)
E18* (p.Glu18Ter) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E18* (p.Glu18Ter) variant details
- p.Glu18Ter
- rs1428487333
- ClinGen CA379366668
- ClinVar RCV000667531
- ClinVar RCV002530714
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)