T131M (p.Thr131Met) variant of BCL11B (B-cell lymphoma/leukemia 11B)
T131M (p.Thr131Met) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
T131M (p.Thr131Met) variant details
- p.Thr131Met
- rs766576104
- ClinGen CA7339900
- ClinVar RCV001890924
- ClinVar RCV004758835
- Likely benign
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.25
- CADD 25.90
- PolyPhen-2 0.57
- SIFT 0.02
- ClinVar: Likely benign (not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available