G34G (p.Gly34Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G34G (p.Gly34Gly) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G34G (p.Gly34Gly) variant details
- p.Gly34Gly
- rs889113421
- gnomAD 11-6390700-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 10.40
- Most common in the 1KG:PUR population (allele frequency 0.0054)
- Structural context available
- Literature evidence available