C88Y (p.Cys88Tyr) variant of BCL11B (B-cell lymphoma/leukemia 11B)
C88Y (p.Cys88Tyr) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
C88Y (p.Cys88Tyr) variant details
- p.Cys88Tyr
- rs755787448
- ClinGen CA7339928
- ClinVar RCV001898084
- ExAC rs755787448
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.47
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available