F126L (p.Phe126Leu) variant of BACH2 (Q9BYV9)
F126L (p.Phe126Leu) 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 0.49 / 1. The record also includes population frequency data.
F126L (p.Phe126Leu) variant details
- p.Phe126Leu
- Ensembl rs993582784
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.41
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)