R107C (p.Arg107Cys) variant of BACH2 (Q9BYV9)
R107C (p.Arg107Cys) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
R107C (p.Arg107Cys) variant details
- p.Arg107Cys
- ExAC rs531266975
- TOPMed rs531266975
- gnomAD rs531266975
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.29
- CADD 29.80
- PolyPhen-2 0.81
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)