E19K (p.Glu19Lys) variant of CARD11 (Q9BXL7)
E19K (p.Glu19Lys) in CARD11 (Q9BXL7) is a missense change. 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.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- Ensembl rs2115094287
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.13
- CADD 26.20
- PolyPhen-2 0.65
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available