R111H (p.Arg111His) variant of BACH2 (Q9BYV9)
R111H (p.Arg111His) 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 0.38 / 1. The record also includes population frequency data.
R111H (p.Arg111His) variant details
- p.Arg111His
- rs150524925
- ClinGen CA3928186
- ClinVar RCV002036290
- ClinVar RCV004044791
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.12
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)