A44E (p.Ala44Glu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A44E (p.Ala44Glu) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A44E (p.Ala44Glu) variant details
- p.Ala44Glu
- ExAC rs776573567
- TOPMed rs776573567
- gnomAD rs776573567
- Missense
- Variant Prioritization Score for Impact Estimate 0.0792
- REVEL 0.01
- CADD 14.20
- PolyPhen-2 0.30
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available