E22D (p.Glu22Asp) variant of VHL (P40337)
E22D (p.Glu22Asp) in VHL (P40337) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E22D (p.Glu22Asp) variant details
- p.Glu22Asp
- Ensembl rs768452685
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.26
- MetaLR 0.52
- MetaSVM -0.48
- CADD 21.00
- PolyPhen-2 0.94
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available