R85K (p.Arg85Lys) variant of BACH2 (Q9BYV9)
R85K (p.Arg85Lys) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
R85K (p.Arg85Lys) variant details
- p.Arg85Lys
- rs775887547
- ClinGen CA3928195
- ClinVar RCV002908305
- ClinVar RCV004887700
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.24
- CADD 19.00
- PolyPhen-2 0.17
- SIFT 0.84
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)