A42A (p.Ala42Ala) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A42A (p.Ala42Ala) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A42A (p.Ala42Ala) variant details
- p.Ala42Ala
- rs571806745
- gnomAD 11-6390724-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.24
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available