R134Q (p.Arg134Gln) variant of NOD1 (Q9Y239)
R134Q (p.Arg134Gln) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R134Q (p.Arg134Gln) variant details
- p.Arg134Gln
- ExAC rs747020735
- TOPMed rs747020735
- gnomAD rs747020735
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.09
- CADD 21.70
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available