C28Y (p.Cys28Tyr) variant of CARD11 (Q9BXL7)
C28Y (p.Cys28Tyr) in CARD11 (Q9BXL7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
C28Y (p.Cys28Tyr) variant details
- p.Cys28Tyr
- Ensembl rs2115094226
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.31
- CADD 24.00
- PolyPhen-2 0.87
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available