E18K (p.Glu18Lys) variant of SMPD1 (Sphingomyelin phosphodiesterase)
E18K (p.Glu18Lys) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- gnomAD rs1428487333
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.01
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.13
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available