G139S (p.Gly139Ser) variant of BACH2 (Q9BYV9)
G139S (p.Gly139Ser) 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 0.34 / 1. The record also includes population frequency data.
G139S (p.Gly139Ser) variant details
- p.Gly139Ser
- TOPMed rs1374629645
- gnomAD rs1374629645
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.12
- CADD 22.60
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)