P4L (p.Pro4Leu) variant of BCL6 (B-cell lymphoma 6 protein)
P4L (p.Pro4Leu) in BCL6 (B-cell lymphoma 6 protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- cosmic curated COSV51652
- ExAC rs768405263
- TOPMed rs768405263
- gnomAD rs768405263
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.07
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)