P99L (p.Pro99Leu) variant of BCL11B (B-cell lymphoma/leukemia 11B)
P99L (p.Pro99Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P99L (p.Pro99Leu) variant details
- p.Pro99Leu
- rs1889207328
- ClinGen CA390939044
- ClinVar RCV001330355
- Ensembl rs1889207328
- Uncertain significance
- Immunodeficiency 49
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.18
- CADD 24.00
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 49)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available