A38A (p.Ala38Ala) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A38A (p.Ala38Ala) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A38A (p.Ala38Ala) variant details
- p.Ala38Ala
- rs1195507316
- gnomAD 11-6390712-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 7.34
- Most common in the East Asian population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available