V20V (p.Val20Val) variant of VHL (P40337)
V20V (p.Val20Val) in VHL (P40337) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V20V (p.Val20Val) variant details
- p.Val20Val
- rs1553619311
- gnomAD 3-10141907-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 3.77
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available