S50L (p.Ser50Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
S50L (p.Ser50Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S50L (p.Ser50Leu) variant details
- p.Ser50Leu
- gnomAD 11-6390745-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 12.50
- Population evidence available
- Structural context available
- Literature evidence available