D28E (p.Asp28Glu) variant of VHL (P40337)
D28E (p.Asp28Glu) in VHL (P40337) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D28E (p.Asp28Glu) variant details
- p.Asp28Glu
- gnomAD rs1198287627
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.24
- MetaLR 0.36
- MetaSVM -0.73
- CADD 5.42
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available