D52N (p.Asp52Asn) variant of BCL11B (B-cell lymphoma/leukemia 11B)
D52N (p.Asp52Asn) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D52N (p.Asp52Asn) variant details
- p.Asp52Asn
- rs778308976
- NCI-TCGA Cosmic COSV1005
- ExAC rs778308976
- TOPMed rs778308976
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.32
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 6.7e-05)
- Structural context available