V20F (p.Val20Phe) variant of VHL (P40337)
V20F (p.Val20Phe) 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 0.27 / 1. The record also includes population frequency data and structural context.
V20F (p.Val20Phe) variant details
- p.Val20Phe
- Ensembl rs2125124555
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.17
- AlphaMissense 0.09
- MetaLR 0.28
- MetaSVM -0.80
- CADD 17.20
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available