S50W (p.Ser50Trp) variant of SMPD1 (Sphingomyelin phosphodiesterase)
S50W (p.Ser50Trp) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S50W (p.Ser50Trp) variant details
- p.Ser50Trp
- gnomAD 11-6390746-T-TGGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 18.90
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available