V126L (p.Val126Leu) variant of NOD1 (Q9Y239)
V126L (p.Val126Leu) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V126L (p.Val126Leu) variant details
- p.Val126Leu
- ExAC rs749926258
- TOPMed rs749926258
- gnomAD rs749926258
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.18
- CADD 33.00
- PolyPhen-2 0.56
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available