E47A (p.Glu47Ala) variant of BACH2 (Q9BYV9)
E47A (p.Glu47Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
E47A (p.Glu47Ala) variant details
- p.Glu47Ala
- rs1777543091
- ClinGen CA365069241
- ClinVar RCV004327097
- TOPMed rs1777543091
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.48
- CADD 27.60
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)