A48L (p.Ala48Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A48L (p.Ala48Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A48L (p.Ala48Leu) variant details
- p.Ala48Leu
- gnomAD 11-6390738-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 16.70
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available