D2Y (p.Asp2Tyr) variant of BAX (Apoptosis regulator BAX)
D2Y (p.Asp2Tyr) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D2Y (p.Asp2Tyr) variant details
- p.Asp2Tyr
- TOPMed rs1387225550
- gnomAD rs1387225550
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.18
- CADD 34.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available