I38T (p.Ile38Thr) variant of BCL11B (B-cell lymphoma/leukemia 11B)
I38T (p.Ile38Thr) 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 0.28 / 1. The record also includes population frequency data and structural context.
I38T (p.Ile38Thr) variant details
- p.Ile38Thr
- rs1236548020
- ClinGen CA390939788
- ClinVar RCV003854163
- gnomAD rs1236548020
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.13
- CADD 21.60
- PolyPhen-2 0.07
- SIFT 0.44
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available