R139H (p.Arg139His) variant of NOD1 (Q9Y239)
R139H (p.Arg139His) 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 0.22 / 1. The record also includes population frequency data and structural context.
R139H (p.Arg139His) variant details
- p.Arg139His
- rs549088103
- 1000Genomes rs549088103
- ExAC rs549088103
- TOPMed rs549088103
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.19
- CADD 15.80
- PolyPhen-2 0.80
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available