E16G (p.Glu16Gly) variant of VHL (P40337)
E16G (p.Glu16Gly) in VHL (P40337) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E16G (p.Glu16Gly) variant details
- p.Glu16Gly
- TOPMed rs864622379
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.33
- MetaLR 0.47
- MetaSVM -0.51
- CADD 22.00
- PolyPhen-2 0.73
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available