S4Y (p.Ser4Tyr) variant of BAX (Apoptosis regulator BAX)
S4Y (p.Ser4Tyr) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S4Y (p.Ser4Tyr) variant details
- p.Ser4Tyr
- cosmic curated COSV53171
- ExAC rs749316753
- TOPMed rs749316753
- gnomAD rs749316753
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.07
- CADD 33.00
- PolyPhen-2 0.48
- SIFT 0.01
- Population evidence available
- Structural context available