A44V (p.Ala44Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A44V (p.Ala44Val) 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.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- ExAC rs776573567
- TOPMed rs776573567
- gnomAD rs776573567
- Missense
- Variant Prioritization Score for Impact Estimate 0.081
- REVEL 0.02
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available