V43M (p.Val43Met) variant of BACH2 (Q9BYV9)
V43M (p.Val43Met) 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 0.60 / 1. The record also includes population frequency data.
V43M (p.Val43Met) variant details
- p.Val43Met
- rs1460936502
- NCI-TCGA Cosmic COSV5759
- cosmic curated COSV57599
- gnomAD rs1460936502
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.47
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)