A5S (p.Ala5Ser) variant of BCL10 (B-cell lymphoma/leukemia 10)
A5S (p.Ala5Ser) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Immunodeficiency 37; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- rs12037217
- ClinGen CA929838
- cosmic curated COSV65354
- ClinVar RCV000532322
- Benign/Likely benign
- Immunodeficiency 37; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Benign/Likely benign (Immunodeficiency 37; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:LAHU population (allele frequency 0.5)
- Cited in: Inactivating mutations and overexpression of BCL10, a caspase recruitment domain-containing gene, in MALT lymphoma with… (PMID 10319863)
- Cited in: Absence of BCL10 mutations in human malignant mesothelioma. (PMID 10380921)