R103G (p.Arg103Gly) variant of BCL11B (B-cell lymphoma/leukemia 11B)
R103G (p.Arg103Gly) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R103G (p.Arg103Gly) variant details
- p.Arg103Gly
- 1000Genomes rs201749852
- ExAC rs201749852
- TOPMed rs201749852
- gnomAD rs201749852
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.20
- CADD 23.10
- PolyPhen-2 0.19
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available