P137L (p.Pro137Leu) variant of PKD1 (Polycystin-1)
P137L (p.Pro137Leu) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of PKD1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P137L (p.Pro137Leu) variant details
- p.Pro137Leu
- rs531501851
- ClinGen CA7833711
- ClinVar RCV003981557
- 1000Genomes rs531501851
- Likely benign
- PKD1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.31
- MetaLR 0.47
- MetaSVM -0.45
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Likely benign (PKD1-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PJL population (allele frequency 0.036)
- Structural context available