A152V (p.Ala152Val) variant of BCL11B (B-cell lymphoma/leukemia 11B)
A152V (p.Ala152Val) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A152V (p.Ala152Val) variant details
- p.Ala152Val
- rs1201537871
- ClinGen CA390937480
- ClinVar RCV001968581
- ClinVar RCV002569182
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.08
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-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)