I3122S (p.Ile3122Ser) variant of PKD1 (Polycystin-1)
I3122S (p.Ile3122Ser) 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 0.67 / 1. The record also includes published literature and structural context.
I3122S (p.Ile3122Ser) variant details
- p.Ile3122Ser
- rs2092119998
- ClinGen CA394357715
- ClinVar RCV001281317
- Ensembl rs2092119998
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- AlphaMissense 0.98
- MetaLR 0.58
- MetaSVM 0.41
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- 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)