K118R (p.Lys118Arg) variant of NOD1 (Q9Y239)
K118R (p.Lys118Arg) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
K118R (p.Lys118Arg) variant details
- p.Lys118Arg
- ESP rs138268329
- gnomAD rs138268329
- Missense
- Variant Prioritization Score for Impact Estimate 0.0966
- REVEL 0.01
- CADD 9.27
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available