Y49C (p.Tyr49Cys) variant of NOD1 (Q9Y239)
Y49C (p.Tyr49Cys) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Y49C (p.Tyr49Cys) variant details
- p.Tyr49Cys
- ESP rs372023833
- TOPMed rs372023833
- gnomAD rs372023833
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.25
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available