R103S (p.Arg103Ser) variant of BCL11B (B-cell lymphoma/leukemia 11B)
R103S (p.Arg103Ser) 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 Immunodeficiency 49; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R103S (p.Arg103Ser) variant details
- p.Arg103Ser
- rs201749852
- ClinGen CA7339922
- ClinVar RCV003448818
- ClinVar RCV005100109
- Uncertain significance
- Immunodeficiency 49; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.16
- CADD 22.90
- PolyPhen-2 0.14
- SIFT 0.12
- ClinVar: Uncertain significance (Immunodeficiency 49; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available