R144Q (p.Arg144Gln) variant of BACH2 (Q9BYV9)
R144Q (p.Arg144Gln) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
R144Q (p.Arg144Gln) variant details
- p.Arg144Gln
- rs142517589
- ClinGen CA3928172
- cosmic curated COSV99999
- ClinVar RCV001896956
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.07
- CADD 19.10
- PolyPhen-2 0.03
- SIFT 0.38
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)