R17W (p.Arg17Trp) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R17W (p.Arg17Trp) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
R17W (p.Arg17Trp) variant details
- p.Arg17Trp
- TOPMed rs1238859121
- gnomAD rs1238859121
- Missense
- Variant Prioritization Score for Impact Estimate 0.0705
- REVEL 0.02
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available