L19F (p.Leu19Phe) variant of PKD1 (Polycystin-1)
L19F (p.Leu19Phe) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- rs2151858362
- ClinGen CA394282955
- ClinVar RCV002267548
- Ensembl rs2151858362
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -1.06
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.4e-06)
- Structural context available