R107H (p.Arg107His) variant of BACH2 (Q9BYV9)
R107H (p.Arg107His) 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 0.43 / 1. The record also includes population frequency data.
R107H (p.Arg107His) variant details
- p.Arg107His
- rs749061519
- ClinGen CA3928190
- NCI-TCGA Cosmic COSV5758
- cosmic curated COSV57588
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.20
- CADD 22.80
- PolyPhen-2 0.41
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)