L122M (p.Leu122Met) variant of PKD1 (Polycystin-1)
L122M (p.Leu122Met) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L122M (p.Leu122Met) variant details
- p.Leu122Met
- 1000Genomes rs551684367
- ExAC rs551684367
- gnomAD rs551684367
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.69
- MetaLR 0.89
- MetaSVM 0.94
- CADD 22.50
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available