C135Y (p.Cys135Tyr) variant of BCL11B (B-cell lymphoma/leukemia 11B)
C135Y (p.Cys135Tyr) in BCL11B (B-cell lymphoma/leukemia 11B) 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.
C135Y (p.Cys135Tyr) variant details
- p.Cys135Tyr
- gnomAD rs1476826646
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.32
- CADD 23.50
- PolyPhen-2 0.27
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available