V90F (p.Val90Phe) variant of CARD11 (Q9BXL7)
V90F (p.Val90Phe) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
V90F (p.Val90Phe) variant details
- p.Val90Phe
- rs2115090528
- ClinGen CA366647546
- ClinVar RCV002214424
- 1000Genomes rs2115090528
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- AlphaMissense 0.96
- MetaLR 0.10
- MetaSVM -1.07
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.44
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available