V90I (p.Val90Ile) variant of CARD11 (Q9BXL7)
V90I (p.Val90Ile) in CARD11 (Q9BXL7) 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 0.39 / 1. The record also includes population frequency data and structural context.
V90I (p.Val90Ile) variant details
- p.Val90Ile
- NCI-TCGA TCGA novel
- 1000Genomes rs2115090528
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.18
- AlphaMissense 0.96
- MetaLR 0.10
- MetaSVM -1.07
- CADD 24.50
- PolyPhen-2 0.98
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available