A56V (p.Ala56Val) variant of BACH2 (Q9BYV9)
A56V (p.Ala56Val) 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 0.78 / 1. The record also includes population frequency data.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- rs1469024903
- NCI-TCGA Cosmic COSV5759
- cosmic curated COSV57598
- gnomAD rs1469024903
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.79
- CADD 27.10
- PolyPhen-2 0.69
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)