R64K (p.Arg64Lys) variant of BCL10 (B-cell lymphoma/leukemia 10)
R64K (p.Arg64Lys) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and published literature.
R64K (p.Arg64Lys) variant details
- p.Arg64Lys
- UniProt VAR 013216
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- MetaLR 0.02
- MetaSVM -1.03
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.61
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Cited in: Inactivating mutations and overexpression of BCL10, a caspase recruitment domain-containing gene, in MALT lymphoma with… (PMID 10319863)