L2512R (p.Leu2512Arg) variant of PKD1 (Polycystin-1)
L2512R (p.Leu2512Arg) 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 0.61 / 1. The record also includes published literature and structural context.
L2512R (p.Leu2512Arg) variant details
- p.Leu2512Arg
- rs2151772458
- ClinGen CA394368981
- ClinVar RCV002086737
- Ensembl rs2151772458
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- AlphaMissense 0.93
- MetaLR 0.52
- MetaSVM 0.14
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- 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)