S50G (p.Ser50Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
S50G (p.Ser50Gly) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S50G (p.Ser50Gly) variant details
- p.Ser50Gly
- gnomAD 11-6390745-GTCTGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.716
- CADD 23.50
- Population evidence available
- Structural context available
- Literature evidence available