L8L (p.Leu8Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L8L (p.Leu8Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L8L (p.Leu8Leu) variant details
- p.Leu8Leu
- gnomAD 11-6390622-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.1
- CADD 2.73
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available