A20T (p.Ala20Thr) variant of BCL10 (B-cell lymphoma/leukemia 10)
A20T (p.Ala20Thr) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 37. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- rs1660354259
- ClinGen CA340952143
- ClinVar RCV001307153
- gnomAD rs1660354259
- Uncertain significance
- Immunodeficiency 37
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- MetaLR 0.09
- MetaSVM -1.14
- CADD 32.00
- PolyPhen-2 0.88
- SIFT 0.05
- ClinVar: Uncertain significance (Immunodeficiency 37)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available