L45L (p.Leu45Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L45L (p.Leu45Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L45L (p.Leu45Leu) variant details
- p.Leu45Leu
- rs150867628
- gnomAD 11-6390733-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 5.37
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available