L35L (p.Leu35Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L35L (p.Leu35Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L35L (p.Leu35Leu) variant details
- p.Leu35Leu
- rs201367689
- gnomAD 11-6390701-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 9.01
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available