R103C (p.Arg103Cys) variant of BCL11B (B-cell lymphoma/leukemia 11B)
R103C (p.Arg103Cys) 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 0.37 / 1. The record also includes population frequency data and structural context.
R103C (p.Arg103Cys) variant details
- p.Arg103Cys
- rs201749852
- ClinGen CA7339920
- cosmic curated COSV10817
- ClinVar RCV001319362
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.18
- CADD 24.90
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available