R151P (p.Arg151Pro) variant of BACH2 (Q9BYV9)
R151P (p.Arg151Pro) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
R151P (p.Arg151Pro) variant details
- p.Arg151Pro
- rs144637668
- ClinGen CA3928167
- ClinVar RCV002202181
- ClinVar RCV003950926
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.14
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:LWK population (allele frequency 0.012)