A48A (p.Ala48Ala) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A48A (p.Ala48Ala) 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.
A48A (p.Ala48Ala) variant details
- p.Ala48Ala
- rs751904073
- gnomAD 11-6390742-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.83
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available