F143L (p.Phe143Leu) variant of NOD1 (Q9Y239)
F143L (p.Phe143Leu) in NOD1 (Q9Y239) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
F143L (p.Phe143Leu) variant details
- p.Phe143Leu
- ESP rs150469478
- ExAC rs150469478
- TOPMed rs150469478
- gnomAD rs150469478
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.46
- CADD 24.90
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available