C12* (p.Cys12Ter) variant of SMPD1 (Sphingomyelin phosphodiesterase)
C12* (p.Cys12Ter) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
C12* (p.Cys12Ter) variant details
- p.Cys12Ter
- cosmic curated COSV10513
- ExAC rs767287886
- gnomAD rs767287886
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 29.60
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available