C149Y (p.Cys149Tyr) variant of BACH2 (Q9BYV9)
C149Y (p.Cys149Tyr) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
C149Y (p.Cys149Tyr) variant details
- p.Cys149Tyr
- rs1415826095
- ClinGen CA365073002
- ClinVar RCV004086271
- ClinVar RCV006472854
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.23
- CADD 18.30
- PolyPhen-2 0.25
- SIFT 0.26
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)