A44A (p.Ala44Ala) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A44A (p.Ala44Ala) 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.
A44A (p.Ala44Ala) variant details
- p.Ala44Ala
- rs1554933861
- gnomAD 11-6390730-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 6.93
- Population evidence available
- Structural context available
- Literature evidence available