R117C (p.Arg117Cys) variant of BACH2 (Q9BYV9)
R117C (p.Arg117Cys) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
R117C (p.Arg117Cys) variant details
- p.Arg117Cys
- cosmic curated COSV57608
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.61
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)