E12K (p.Glu12Lys) variant of VHL (P40337)
E12K (p.Glu12Lys) 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 0.35 / 1. The record also includes population frequency data and structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- cosmic curated COSV56550
- 1000Genomes rs1064794788
- TOPMed rs1064794788
- gnomAD rs1064794788
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.35
- MetaLR 0.36
- MetaSVM -0.59
- CADD 13.10
- PolyPhen-2 0.03
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available