D48Y (p.Asp48Tyr) variant of BAX (Apoptosis regulator BAX)
D48Y (p.Asp48Tyr) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D48Y (p.Asp48Tyr) variant details
- p.Asp48Tyr
- gnomAD rs2038101851
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.04
- CADD 25.30
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available