Y345N (p.Tyr345Asn) variant of PKD2 (Polycystin-2)
Y345N (p.Tyr345Asn) in PKD2 (Polycystin-2) 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 0.49 / 1. The record also includes published literature and structural context.
Y345N (p.Tyr345Asn) variant details
- p.Tyr345Asn
- rs1485588385
- ClinGen CA357633064
- ClinVar RCV002031774
- Ensembl rs1485588385
- Likely pathogenic
- Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- AlphaMissense 0.59
- MetaLR 0.32
- MetaSVM -0.46
- PolyPhen-2 0.65
- SIFT 0.04
- EVE 0.61
- ClinVar: Likely pathogenic (Autosomal dominant polycystic kidney disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)