L114F (p.Leu114Phe) variant of NOD1 (Q9Y239)
L114F (p.Leu114Phe) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L114F (p.Leu114Phe) variant details
- p.Leu114Phe
- ExAC rs780086681
- gnomAD rs780086681
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.13
- CADD 18.20
- PolyPhen-2 0.60
- SIFT 0.71
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available