W63C (p.Trp63Cys) variant of BACH2 (Q9BYV9)
W63C (p.Trp63Cys) 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 0.45 / 1. The record also includes population frequency data.
W63C (p.Trp63Cys) variant details
- p.Trp63Cys
- TOPMed rs1777540721
- gnomAD rs1777540721
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.21
- CADD 26.00
- PolyPhen-2 0.73
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)