R117H (p.Arg117His) variant of BACH2 (Q9BYV9)
R117H (p.Arg117His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
R117H (p.Arg117His) variant details
- p.Arg117His
- rs1774139493
- ClinGen CA365073221
- ClinVar RCV002672139
- Ensembl rs1774139493
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.19
- CADD 22.80
- PolyPhen-2 0.12
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)