G26G (p.Gly26Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G26G (p.Gly26Gly) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G26G (p.Gly26Gly) variant details
- p.Gly26Gly
- rs747512813
- gnomAD 11-6390676-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.28
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available