Y4* (p.Tyr4Ter) variant of SMPD1 (Sphingomyelin phosphodiesterase)
Y4* (p.Tyr4Ter) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Y4* (p.Tyr4Ter) variant details
- p.Tyr4Ter
- gnomAD 11-6390610-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available