H126Y (p.His126Tyr) variant of BCL11B (B-cell lymphoma/leukemia 11B)
H126Y (p.His126Tyr) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H126Y (p.His126Tyr) variant details
- p.His126Tyr
- ExAC rs751358083
- gnomAD rs751358083
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.11
- CADD 22.00
- PolyPhen-2 0.06
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00022)
- Structural context available