P112T (p.Pro112Thr) variant of BCL11B (B-cell lymphoma/leukemia 11B)
P112T (p.Pro112Thr) 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 0.36 / 1. The record also includes structural context.
P112T (p.Pro112Thr) variant details
- p.Pro112Thr
- rs1477343612
- ClinGen CA390938898
- ClinVar RCV003552906
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- AlphaMissense 0.19
- MetaLR 0.18
- MetaSVM -0.80
- PolyPhen-2 0.31
- SIFT 0.00
- MutPred 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available