L127P (p.Leu127Pro) variant of BCL11B (B-cell lymphoma/leukemia 11B)
L127P (p.Leu127Pro) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L127P (p.Leu127Pro) variant details
- p.Leu127Pro
- rs753885134
- ClinGen CA7339901
- ClinVar RCV002722947
- ClinVar RCV005099581
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.14
- CADD 24.50
- PolyPhen-2 0.28
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)