L37G (p.Leu37Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L37G (p.Leu37Gly) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L37G (p.Leu37Gly) variant details
- p.Leu37Gly
- gnomAD 11-6390706-GCT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 22.30
- Most common in the South Asian population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available