V82L (p.Val82Leu) variant of NOD1 (Q9Y239)
V82L (p.Val82Leu) 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 0.35 / 1. The record also includes population frequency data and structural context.
V82L (p.Val82Leu) variant details
- p.Val82Leu
- rs770394928
- ClinGen CA4205275
- ClinVar RCV004344906
- ExAC rs770394928
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.16
- CADD 19.00
- PolyPhen-2 0.17
- SIFT 0.53
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available