R85T (p.Arg85Thr) variant of BACH2 (Q9BYV9)
R85T (p.Arg85Thr) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
R85T (p.Arg85Thr) variant details
- p.Arg85Thr
- rs775887547
- ClinGen CA3928196
- ClinVar RCV003732779
- ClinVar RCV006382123
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.40
- CADD 25.30
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)