P49L (p.Pro49Leu) variant of BAX (Apoptosis regulator BAX)
P49L (p.Pro49Leu) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P49L (p.Pro49Leu) variant details
- p.Pro49Leu
- TOPMed rs1253388076
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.02
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available