A22S (p.Ala22Ser) variant of BCL11B (B-cell lymphoma/leukemia 11B)
A22S (p.Ala22Ser) 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 0.22 / 1. The record also includes population frequency data and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- rs758993384
- ClinGen CA7339951
- ClinVar RCV002676659
- ExAC rs758993384
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.08
- CADD 18.20
- PolyPhen-2 0.12
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available