R9C (p.Arg9Cys) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R9C (p.Arg9Cys) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
R9C (p.Arg9Cys) variant details
- p.Arg9Cys
- TOPMed rs1440943859
- gnomAD rs1440943859
- Missense
- Variant Prioritization Score for Impact Estimate 0.0781
- REVEL 0.02
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available