D9Y (p.Asp9Tyr) variant of VHL (P40337)
D9Y (p.Asp9Tyr) 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 0.35 / 1. The record also includes population frequency data and structural context.
D9Y (p.Asp9Tyr) variant details
- p.Asp9Tyr
- ExAC rs587780730
- TOPMed rs587780730
- gnomAD rs587780730
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.23
- MetaLR 0.35
- MetaSVM -0.59
- CADD 16.90
- PolyPhen-2 0.09
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available