R3R (p.Arg3Arg) variant of VHL (P40337)
R3R (p.Arg3Arg) 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.
R3R (p.Arg3Arg) variant details
- p.Arg3Arg
- gnomAD 3-10141854-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.12
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available