V144M (p.Val144Met) variant of NOD1 (Q9Y239)
V144M (p.Val144Met) in NOD1 (Q9Y239) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
V144M (p.Val144Met) variant details
- p.Val144Met
- 1000Genomes rs201910425
- ESP rs201910425
- ExAC rs201910425
- TOPMed rs201910425
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.09
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available