Y4F (p.Tyr4Phe) variant of SMPD1 (Sphingomyelin phosphodiesterase)
Y4F (p.Tyr4Phe) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Y4F (p.Tyr4Phe) variant details
- p.Tyr4Phe
- gnomAD 11-6390605-C-CGCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 19.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available