E162Q (p.Glu162Gln) variant of BACH2 (Q9BYV9)
E162Q (p.Glu162Gln) 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 0.31 / 1.
E162Q (p.Glu162Gln) variant details
- p.Glu162Gln
- rs774952715
- ClinGen CA365072920
- ClinVar RCV001971056
- ExAC rs774952715
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.12
- PolyPhen-2 0.88
- SIFT 0.19
- MutPred 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance