G35C (p.Gly35Cys) variant of BCL11B (B-cell lymphoma/leukemia 11B)
G35C (p.Gly35Cys) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. 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.
G35C (p.Gly35Cys) variant details
- p.Gly35Cys
- rs146559118
- ClinGen CA7339939
- ClinVar RCV001982851
- ESP rs146559118
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.10
- CADD 25.20
- PolyPhen-2 0.53
- SIFT 0.03
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available