A27V (p.Ala27Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A27V (p.Ala27Val) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- ExAC rs755490852
- TOPMed rs755490852
- gnomAD rs755490852
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.01
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available