V120L (p.Val120Leu) variant of NOD1 (Q9Y239)
V120L (p.Val120Leu) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V120L (p.Val120Leu) variant details
- p.Val120Leu
- ExAC rs778249529
- TOPMed rs778249529
- gnomAD rs778249529
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.13
- CADD 19.80
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available