E80D (p.Glu80Asp) variant of BACH2 (Q9BYV9)
E80D (p.Glu80Asp) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar, EBI, 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 0.28 / 1.
E80D (p.Glu80Asp) variant details
- p.Glu80Asp
- rs746464663
- ClinGen CA365068918
- ClinVar RCV001891398
- ExAC rs746464663
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- AlphaMissense 0.18
- MetaLR 0.06
- MetaSVM -1.08
- PolyPhen-2 0.00
- SIFT 0.11
- EVE 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign