D9D (p.Asp9Asp) variant of VHL (P40337)
D9D (p.Asp9Asp) in VHL (P40337) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
D9D (p.Asp9Asp) variant details
- p.Asp9Asp
- rs1017141110
- gnomAD 3-10141874-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.72
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available