C30Y (p.Cys30Tyr) variant of PKD1 (Polycystin-1)
C30Y (p.Cys30Tyr) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
C30Y (p.Cys30Tyr) variant details
- p.Cys30Tyr
- rs2092941343
- ClinGen CA394282797
- ClinVar RCV001286026
- Ensembl rs2092941343
- Uncertain significance
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.07
- CADD 22.50
- PolyPhen-2 0.27
- SIFT 0.00
- ClinVar: Uncertain significance (Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)