G14G (p.Gly14Gly) variant of VHL (P40337)
G14G (p.Gly14Gly) in VHL (P40337) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G14G (p.Gly14Gly) variant details
- p.Gly14Gly
- gnomAD 3-10141889-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 5.54
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available