R107S (p.Arg107Ser) variant of BCL11B (B-cell lymphoma/leukemia 11B)
R107S (p.Arg107Ser) 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 0.43 / 1. The record also includes population frequency data and structural context.
R107S (p.Arg107Ser) variant details
- p.Arg107Ser
- rs2503926629
- ClinGen CA390938949
- ClinVar RCV002296008
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.20
- CADD 23.70
- PolyPhen-2 0.32
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available