G29G (p.Gly29Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G29G (p.Gly29Gly) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G29G (p.Gly29Gly) variant details
- p.Gly29Gly
- rs1193641309
- gnomAD 11-6390685-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 9.29
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available