V20S (p.Val20Ser) variant of VHL (P40337)
V20S (p.Val20Ser) in VHL (P40337) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V20S (p.Val20Ser) variant details
- p.Val20Ser
- rs1553619308
- gnomAD 3-10141903-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 19.70
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available