W32* (p.Trp32Ter) variant of SMPD1 (Sphingomyelin phosphodiesterase)
W32* (p.Trp32Ter) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
W32* (p.Trp32Ter) variant details
- p.Trp32Ter
- rs786204506
- ClinGen CA274022
- ClinVar RCV000169189
- ClinVar RCV001199862
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-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)