P112L (p.Pro112Leu) variant of BCL11B (B-cell lymphoma/leukemia 11B)
P112L (p.Pro112Leu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P112L (p.Pro112Leu) variant details
- p.Pro112Leu
- rs748592687
- ClinGen CA7339914
- NCI-TCGA Cosmic COSV6173
- cosmic curated COSV61735
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.28
- CADD 27.10
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available