G126V (p.Gly126Val) variant of CARD11 (Q9BXL7)
G126V (p.Gly126Val) in CARD11 (Q9BXL7) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and structural context.
G126V (p.Gly126Val) variant details
- p.Gly126Val
- gnomAD rs1423056320
- Pathogenic
- Missense
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available