R3L (p.Arg3Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R3L (p.Arg3Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- 1000Genomes rs199836262
- ESP rs199836262
- ExAC rs199836262
- TOPMed rs199836262
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.04
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.08
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available