G82R (p.Gly82Arg) variant of BAK1 (Q16611)
G82R (p.Gly82Arg) in BAK1 (Q16611) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
G82R (p.Gly82Arg) variant details
- p.Gly82Arg
- rs775198844
- ExAC rs775198844
- TOPMed rs775198844
- gnomAD rs775198844
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.46
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available