A38W (p.Ala38Trp) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A38W (p.Ala38Trp) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A38W (p.Ala38Trp) variant details
- p.Ala38Trp
- gnomAD 11-6390709-GGCGC-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.802
- CADD 23.30
- Most common in the South Asian population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available