A5G (p.Ala5Gly) variant of BCL10 (B-cell lymphoma/leukemia 10)
A5G (p.Ala5Gly) 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.
A5G (p.Ala5Gly) variant details
- p.Ala5Gly
- rs778423633
- ClinGen CA929837
- ClinVar RCV003586964
- ExAC rs778423633
- Uncertain significance
- Immunodeficiency 37
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Immunodeficiency 37)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)