T2424R (p.Thr2424Arg) variant of PKD1 (Polycystin-1)
T2424R (p.Thr2424Arg) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
T2424R (p.Thr2424Arg) variant details
- p.Thr2424Arg
- rs1367567191
- ClinGen CA394370497
- ClinVar RCV001283799
- gnomAD rs1367567191
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.65
- MetaLR 0.61
- MetaSVM 0.35
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)