E162A (p.Glu162Ala) variant of BACH2 (Q9BYV9)
E162A (p.Glu162Ala) 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. The record also includes population frequency data.
E162A (p.Glu162Ala) variant details
- p.Glu162Ala
- rs765825161
- ClinGen CA3928157
- ClinVar RCV001872173
- ExAC rs765825161
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.06
- CADD 19.90
- PolyPhen-2 0.26
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)