L35G (p.Leu35Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L35G (p.Leu35Gly) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L35G (p.Leu35Gly) variant details
- p.Leu35Gly
- rs755988781
- gnomAD 11-6390699-GCC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.334
- CADD 22.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available