L39L (p.Leu39Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L39L (p.Leu39Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. 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.
L39L (p.Leu39Leu) variant details
- p.Leu39Leu
- rs1436174840
- gnomAD 11-6390715-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.469
- CADD 9.43
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- Literature evidence available