A46A (p.Ala46Ala) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A46A (p.Ala46Ala) 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.
A46A (p.Ala46Ala) variant details
- p.Ala46Ala
- rs200763765
- gnomAD 11-6390736-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 7.63
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available