G35V (p.Gly35Val) variant of BCL11B (B-cell lymphoma/leukemia 11B)
G35V (p.Gly35Val) 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 0.28 / 1. The record also includes population frequency data and structural context.
G35V (p.Gly35Val) variant details
- p.Gly35Val
- rs2139954283
- ClinGen CA390939822
- ClinVar RCV002222844
- Ensembl rs2139954283
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.03
- CADD 22.90
- PolyPhen-2 0.11
- 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 1.8e-06)
- Structural context available