L39G (p.Leu39Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L39G (p.Leu39Gly) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L39G (p.Leu39Gly) variant details
- p.Leu39Gly
- gnomAD 11-6390709-GGC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 17.00
- Most common in the Non-Finnish European population (allele frequency 6.2e-06)
- Structural context available
- Literature evidence available