A48V (p.Ala48Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A48V (p.Ala48Val) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- cosmic curated COSV54971
- TOPMed rs1847867448
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.01
- CADD 8.21
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available