Y129C (p.Tyr129Cys) variant of NOD1 (Q9Y239)
Y129C (p.Tyr129Cys) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Y129C (p.Tyr129Cys) variant details
- p.Tyr129Cys
- ExAC rs765128426
- gnomAD rs765128426
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.73
- CADD 27.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available