R144W (p.Arg144Trp) variant of BACH2 (Q9BYV9)
R144W (p.Arg144Trp) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar 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 0.30 / 1. The record also includes population frequency data.
R144W (p.Arg144Trp) variant details
- p.Arg144Trp
- rs1227106751
- cosmic curated COSV10723
- TOPMed rs1227106751
- gnomAD rs1227106751
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.16
- CADD 24.80
- PolyPhen-2 0.64
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)