Y147C (p.Tyr147Cys) variant of NOD1 (Q9Y239)
Y147C (p.Tyr147Cys) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
Y147C (p.Tyr147Cys) variant details
- p.Tyr147Cys
- ExAC rs753691409
- TOPMed rs753691409
- gnomAD rs753691409
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.85
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available