A44P (p.Ala44Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A44P (p.Ala44Pro) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
A44P (p.Ala44Pro) variant details
- p.Ala44Pro
- TOPMed rs1201900242
- gnomAD rs1201900242
- Missense
- Variant Prioritization Score for Impact Estimate 0.0962
- REVEL 0.05
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available