V84F (p.Val84Phe) variant of PKD1 (Polycystin-1)
V84F (p.Val84Phe) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
V84F (p.Val84Phe) variant details
- p.Val84Phe
- TOPMed rs914018183
- gnomAD rs914018183
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0954
- REVEL 0.05
- MetaLR 0.12
- MetaSVM -0.96
- CADD 3.07
- PolyPhen-2 0.04
- SIFT 0.34
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available