R151H (p.Arg151His) variant of BACH2 (Q9BYV9)
R151H (p.Arg151His) 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 0.25 / 1. The record also includes population frequency data.
R151H (p.Arg151His) variant details
- p.Arg151His
- rs144637668
- ClinGen CA3928168
- cosmic curated COSV57584
- ClinVar RCV002031796
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.08
- CADD 16.80
- PolyPhen-2 0.10
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)