G116R (p.Gly116Arg) variant of BCL11B (B-cell lymphoma/leukemia 11B)
G116R (p.Gly116Arg) 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 0.56 / 1. The record also includes population frequency data and structural context.
G116R (p.Gly116Arg) variant details
- p.Gly116Arg
- rs2503926497
- ClinGen CA390938847
- ClinVar RCV003227448
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.38
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- 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