A46G (p.Ala46Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A46G (p.Ala46Gly) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A46G (p.Ala46Gly) variant details
- p.Ala46Gly
- gnomAD 11-6390732-TGGCGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.203
- CADD 17.30
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available