A27A (p.Ala27Ala) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A27A (p.Ala27Ala) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A27A (p.Ala27Ala) variant details
- p.Ala27Ala
- rs902105449
- gnomAD 11-6390679-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 9.43
- Population evidence available
- Structural context available
- Literature evidence available