Q116L (p.Gln116Leu) variant of NOD1 (Q9Y239)
Q116L (p.Gln116Leu) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
Q116L (p.Gln116Leu) variant details
- p.Gln116Leu
- ExAC rs781489015
- gnomAD rs781489015
- Missense
- Variant Prioritization Score for Impact Estimate 0.0767
- REVEL 0.05
- CADD 7.23
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available