L104R (p.Leu104Arg) variant of NOD1 (Q9Y239)
L104R (p.Leu104Arg) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L104R (p.Leu104Arg) variant details
- p.Leu104Arg
- ExAC rs766080418
- TOPMed rs766080418
- gnomAD rs766080418
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.57
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available