V74L (p.Val74Leu) variant of PKD1 (Polycystin-1)
V74L (p.Val74Leu) 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 0.08 / 1. The record also includes population frequency data and structural context.
V74L (p.Val74Leu) variant details
- p.Val74Leu
- TOPMed rs1048339818
- gnomAD rs1048339818
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0799
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.95
- CADD 0.20
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available