M1K (p.Met1Lys) variant of PKD2 (Polycystin-2)
M1K (p.Met1Lys) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant polycystic kidney disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs1477510994
- ClinGen CA357624744
- ClinVar RCV002988662
- ClinVar RCV004774769
- Uncertain significance
- Autosomal dominant polycystic kidney disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- MetaLR 0.15
- MetaSVM -0.77
- PolyPhen-2 0.08
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Autosomal dominant polycystic kidney disease; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)
- Cited in: Spanish guidelines for the management of autosomal dominant polycystic kidney disease. (PMID 25165191)