G14C (p.Gly14Cys) variant of VHL (P40337)
G14C (p.Gly14Cys) 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 0.39 / 1. The record also includes population frequency data and structural context.
G14C (p.Gly14Cys) variant details
- p.Gly14Cys
- gnomAD rs1060503559
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.42
- MetaLR 0.61
- MetaSVM -0.32
- CADD 18.20
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available