P98L (p.Pro98Leu) variant of BCL11B (B-cell lymphoma/leukemia 11B)
P98L (p.Pro98Leu) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P98L (p.Pro98Leu) variant details
- p.Pro98Leu
- rs145770156
- ClinGen CA7339923
- ClinVar RCV002207510
- ClinVar RCV004531321
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.23
- CADD 24.80
- PolyPhen-2 0.42
- SIFT 0.01
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available