P25P (p.Pro25Pro) variant of VHL (P40337)
P25P (p.Pro25Pro) in VHL (P40337) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P25P (p.Pro25Pro) variant details
- p.Pro25Pro
- rs1553619317
- gnomAD 3-10141922-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 7.17
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available