R4R (p.Arg4Arg) variant of VHL (P40337)
R4R (p.Arg4Arg) in VHL (P40337) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R4R (p.Arg4Arg) variant details
- p.Arg4Arg
- rs1553619274
- gnomAD 3-10141859-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 13.10
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available