R3C (p.Arg3Cys) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R3C (p.Arg3Cys) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- ExAC rs772745537
- gnomAD rs772745537
- Missense
- Variant Prioritization Score for Impact Estimate 0.0909
- REVEL 0.03
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available