R103H (p.Arg103His) variant of BCL11B (B-cell lymphoma/leukemia 11B)
R103H (p.Arg103His) 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 0.35 / 1. The record also includes population frequency data and structural context.
R103H (p.Arg103His) variant details
- p.Arg103His
- rs1359029879
- ClinGen CA390939002
- ClinVar RCV001939134
- gnomAD rs1359029879
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.07
- CADD 22.80
- PolyPhen-2 0.39
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available