R17P (p.Arg17Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R17P (p.Arg17Pro) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R17P (p.Arg17Pro) variant details
- p.Arg17Pro
- ExAC rs764126465
- TOPMed rs764126465
- gnomAD rs764126465
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.06
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available