P55A (p.Pro55Ala) variant of BAK1 (Q16611)
P55A (p.Pro55Ala) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P55A (p.Pro55Ala) variant details
- p.Pro55Ala
- TOPMed rs1160330534
- gnomAD rs1160330534
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.08
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available