E157K (p.Glu157Lys) variant of BACH2 (Q9BYV9)
E157K (p.Glu157Lys) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
E157K (p.Glu157Lys) variant details
- p.Glu157Lys
- rs138868869
- ClinGen CA3928164
- ClinVar RCV002908253
- ClinVar RCV004066085
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.11
- CADD 13.70
- PolyPhen-2 0.04
- SIFT 0.71
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)