A40A (p.Ala40Ala) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A40A (p.Ala40Ala) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- rs1847864828
- gnomAD 11-6390718-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.77
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available