A25A (p.Ala25Ala) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A25A (p.Ala25Ala) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A25A (p.Ala25Ala) variant details
- p.Ala25Ala
- gnomAD 11-6390673-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0883
- CADD 1.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available