P2P (p.Pro2Pro) variant of VHL (P40337)
P2P (p.Pro2Pro) in VHL (P40337) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P2P (p.Pro2Pro) variant details
- p.Pro2Pro
- rs1014417508
- gnomAD 3-10141853-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 8.82
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available