L19R (p.Leu19Arg) variant of BAK1 (Q16611)
L19R (p.Leu19Arg) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
L19R (p.Leu19Arg) variant details
- p.Leu19Arg
- 1000Genomes rs549441758
- TOPMed rs549441758
- gnomAD rs549441758
- Missense
- Variant Prioritization Score for Impact Estimate 0.0605
- REVEL 0.05
- CADD 1.15
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available