R139C (p.Arg139Cys) variant of NOD1 (Q9Y239)
R139C (p.Arg139Cys) 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 0.14 / 1. The record also includes population frequency data and structural context.
R139C (p.Arg139Cys) variant details
- p.Arg139Cys
- rs772446340
- NCI-TCGA Cosmic COSV9976
- ExAC rs772446340
- TOPMed rs772446340
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.07
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available