F115L (p.Phe115Leu) variant of BACH2 (Q9BYV9)
F115L (p.Phe115Leu) in BACH2 (Q9BYV9) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
F115L (p.Phe115Leu) variant details
- p.Phe115Leu
- NCI-TCGA Cosmic COSV5759
- cosmic curated COSV57596
- TOPMed rs1774139691
- gnomAD rs1774139691
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.20
- CADD 22.10
- PolyPhen-2 0.04
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)