L45G (p.Leu45Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L45G (p.Leu45Gly) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L45G (p.Leu45Gly) variant details
- p.Leu45Gly
- rs1345646067
- gnomAD 11-6390727-GGC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 21.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available