G34A (p.Gly34Ala) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G34A (p.Gly34Ala) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G34A (p.Gly34Ala) variant details
- p.Gly34Ala
- gnomAD 11-6390696-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 22.30
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available