M47T (p.Met47Thr) variant of BCL11B (B-cell lymphoma/leukemia 11B)
M47T (p.Met47Thr) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
M47T (p.Met47Thr) variant details
- p.Met47Thr
- ESP rs372022855
- ExAC rs372022855
- TOPMed rs372022855
- gnomAD rs372022855
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.10
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available