Q21* (p.Gln21Ter) variant of SMPD1 (Sphingomyelin phosphodiesterase)
Q21* (p.Gln21Ter) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q21* (p.Gln21Ter) variant details
- p.Gln21Ter
- rs1554933751
- ClinGen CA379366761
- ClinVar RCV000670505
- ClinVar RCV001868244
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-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)