R69L (p.Arg69Leu) variant of NOD1 (Q9Y239)
R69L (p.Arg69Leu) 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 0.74 / 1. The record also includes population frequency data and structural context.
R69L (p.Arg69Leu) variant details
- p.Arg69Leu
- rs768166122
- ExAC rs768166122
- TOPMed rs768166122
- gnomAD rs768166122
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.69
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available