E154K (p.Glu154Lys) variant of BACH2 (Q9BYV9)
E154K (p.Glu154Lys) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar 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 0.21 / 1. The record also includes population frequency data.
E154K (p.Glu154Lys) variant details
- p.Glu154Lys
- cosmic curated COSV57604
- TOPMed rs1774128748
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.03
- CADD 8.93
- PolyPhen-2 0.04
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)