D4Y (p.Asp4Tyr) variant of BACH2 (Q9BYV9)
D4Y (p.Asp4Tyr) 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 0.44 / 1. The record also includes population frequency data.
D4Y (p.Asp4Tyr) variant details
- p.Asp4Tyr
- gnomAD rs1460440753
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.32
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)