V144L (p.Val144Leu) variant of NOD1 (Q9Y239)
V144L (p.Val144Leu) in NOD1 (Q9Y239) is a missense change. Clinical records from ClinVar, EBI, 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 0.09 / 1. The record also includes population frequency data and structural context.
V144L (p.Val144Leu) variant details
- p.Val144Leu
- rs201910425
- ClinGen CA4205201
- ClinVar RCV004487885
- 1000Genomes rs201910425
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0879
- REVEL 0.06
- CADD 6.71
- PolyPhen-2 0.00
- SIFT 0.84
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available