R111C (p.Arg111Cys) variant of BACH2 (Q9BYV9)
R111C (p.Arg111Cys) 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 0.65 / 1. The record also includes population frequency data.
R111C (p.Arg111Cys) variant details
- p.Arg111Cys
- NCI-TCGA Cosmic COSV5760
- cosmic curated COSV57609
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.55
- CADD 26.50
- PolyPhen-2 0.92
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)