A28T (p.Ala28Thr) variant of BCL11B (B-cell lymphoma/leukemia 11B)
A28T (p.Ala28Thr) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- rs766014776
- ClinGen CA7339946
- cosmic curated COSV61733
- ClinVar RCV001943471
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.09
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 5.5e-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)