A27D (p.Ala27Asp) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A27D (p.Ala27Asp) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- ExAC rs755490852
- TOPMed rs755490852
- gnomAD rs755490852
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.04
- CADD 9.56
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available