A22T (p.Ala22Thr) variant of BCL11B (B-cell lymphoma/leukemia 11B)
A22T (p.Ala22Thr) 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 0.22 / 1. The record also includes population frequency data and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- rs758993384
- ClinGen CA390939985
- ClinVar RCV003031946
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.08
- CADD 20.40
- PolyPhen-2 0.17
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available