E121Q (p.Glu121Gln) variant of CARD11 (Q9BXL7)
E121Q (p.Glu121Gln) in CARD11 (Q9BXL7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E121Q (p.Glu121Gln) variant details
- p.Glu121Gln
- NCI-TCGA Cosmic COSV1007
- gnomAD rs1450598321
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.12
- CADD 28.10
- PolyPhen-2 0.81
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available