E18K (p.Glu18Lys) variant of CARD11 (Q9BXL7)
E18K (p.Glu18Lys) 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 0.39 / 1. The record also includes population frequency data and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- NCI-TCGA Cosmic COSV6272
- TOPMed rs1780509303
- gnomAD rs1780509303
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.14
- CADD 24.20
- PolyPhen-2 0.30
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available