V26I (p.Val26Ile) variant of BCL10 (B-cell lymphoma/leukemia 10)
V26I (p.Val26Ile) 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 0.56 / 1. The record also includes population frequency data.
V26I (p.Val26Ile) variant details
- p.Val26Ile
- rs2100748126
- ClinGen CA340952059
- ClinVar RCV001373081
- Ensembl rs2100748126
- Uncertain significance
- Immunodeficiency 37
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- MetaLR 0.02
- MetaSVM -1.03
- CADD 19.30
- PolyPhen-2 0.24
- SIFT 0.39
- ClinVar: Uncertain significance (Immunodeficiency 37)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)