R31Q (p.Arg31Gln) variant of BACH2 (Q9BYV9)
R31Q (p.Arg31Gln) 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 0.60 / 1. The record also includes population frequency data.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- rs1777545442
- ClinGen CA365069432
- NCI-TCGA Cosmic COSV5758
- cosmic curated COSV57584
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.46
- CADD 28.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)