A46W (p.Ala46Trp) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A46W (p.Ala46Trp) 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.
A46W (p.Ala46Trp) variant details
- p.Ala46Trp
- rs1464153315
- gnomAD 11-6390732-TGGCG-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.207
- CADD 17.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available