Q73L (p.Gln73Leu) variant of BAK1 (Q16611)
Q73L (p.Gln73Leu) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q73L (p.Gln73Leu) variant details
- p.Gln73Leu
- ESP rs375888869
- ExAC rs375888869
- TOPMed rs375888869
- gnomAD rs375888869
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.10
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available