Q130E (p.Gln130Glu) variant of BACH2 (Q9BYV9)
Q130E (p.Gln130Glu) 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 0.35 / 1. The record also includes population frequency data.
Q130E (p.Gln130Glu) variant details
- p.Gln130Glu
- ExAC rs776001544
- gnomAD rs776001544
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.09
- CADD 18.50
- PolyPhen-2 0.02
- SIFT 0.71
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)