A42G (p.Ala42Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A42G (p.Ala42Gly) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A42G (p.Ala42Gly) variant details
- p.Ala42Gly
- gnomAD 11-6390720-TGGCGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 19.80
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available