R35L (p.Arg35Leu) variant of NOD1 (Q9Y239)
R35L (p.Arg35Leu) in NOD1 (Q9Y239) 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 0.19 / 1. The record also includes population frequency data and structural context.
R35L (p.Arg35Leu) variant details
- p.Arg35Leu
- ExAC rs764315889
- TOPMed rs764315889
- gnomAD rs764315889
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.15
- CADD 22.70
- PolyPhen-2 0.72
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available