A38G (p.Ala38Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A38G (p.Ala38Gly) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A38G (p.Ala38Gly) variant details
- p.Ala38Gly
- rs773261292
- gnomAD 11-6390708-TGGCGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 23.20
- Most common in the Latino/Admixed American population (allele frequency 7.6e-05)
- Structural context available
- Literature evidence available