L46P (p.Leu46Pro) variant of BCL11B (B-cell lymphoma/leukemia 11B)
L46P (p.Leu46Pro) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, 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 0.30 / 1. The record also includes structural context.
L46P (p.Leu46Pro) variant details
- p.Leu46Pro
- rs2139954162
- ClinGen CA390939703
- ClinVar RCV001975649
- Ensembl rs2139954162
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- AlphaMissense 0.44
- MetaLR 0.03
- MetaSVM -1.11
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.44
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available