p.Leu39 Ala40insValLeu variant of SMPD1 (Sphingomyelin phosphodiesterase)
p.Leu39 Ala40insValLeu in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu39 Ala40insValLeu variant details
- rs1464778478
- gnomAD 11-6390711-C-CGCT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.152
- CADD 8.55
- Most common in the Non-Finnish European population (allele frequency 0.00016)
- Structural context available
- Literature evidence available