L87M (p.Leu87Met) variant of PKD1 (Polycystin-1)
L87M (p.Leu87Met) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L87M (p.Leu87Met) variant details
- p.Leu87Met
- UniProt VAR 058761
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.22
- MetaLR 0.30
- MetaSVM -0.85
- CADD 22.30
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients. (PMID 12007219)