R111L (p.Arg111Leu) variant of BACH2 (Q9BYV9)
R111L (p.Arg111Leu) in BACH2 (Q9BYV9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
R111L (p.Arg111Leu) variant details
- p.Arg111Leu
- ESP rs150524925
- ExAC rs150524925
- TOPMed rs150524925
- gnomAD rs150524925
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.27
- CADD 23.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)