V1289M (p.Val1289Met) variant of PKD1 (Polycystin-1)
V1289M (p.Val1289Met) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant polycystic kidney disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V1289M (p.Val1289Met) variant details
- p.Val1289Met
- rs541552030
- ClinGen CA7832608
- cosmic curated COSV51920
- ClinVar RCV001844973
- Likely pathogenic
- Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.23
- CADD 15.50
- PolyPhen-2 0.51
- SIFT 0.02
- ClinVar: Likely pathogenic (Autosomal dominant polycystic kidney disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- 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)