Q10R (p.Gln10Arg) variant of BCL11B (B-cell lymphoma/leukemia 11B)
Q10R (p.Gln10Arg) 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 0.25 / 1. The record also includes population frequency data and structural context.
Q10R (p.Gln10Arg) variant details
- p.Gln10Arg
- rs764743438
- ClinGen CA7339966
- ClinVar RCV003719354
- ExAC rs764743438
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.09
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-06)
- Structural context available