R27Q (p.Arg27Gln) variant of NOD1 (Q9Y239)
R27Q (p.Arg27Gln) in NOD1 (Q9Y239) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R27Q (p.Arg27Gln) variant details
- p.Arg27Gln
- rs750433986
- NCI-TCGA Cosmic COSV5611
- ExAC rs750433986
- TOPMed rs750433986
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.47
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available