R103K (p.Arg103Lys) variant of BACH2 (Q9BYV9)
R103K (p.Arg103Lys) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
R103K (p.Arg103Lys) variant details
- p.Arg103Lys
- cosmic curated COSV10585
- TOPMed rs1184528807
- gnomAD rs1184528807
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.07
- CADD 20.60
- Most common in the REMAINING population (allele frequency 0.00048)