R2767P (p.Arg2767Pro) variant of PKD1 (Polycystin-1)
R2767P (p.Arg2767Pro) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
R2767P (p.Arg2767Pro) variant details
- p.Arg2767Pro
- rs770080914
- ClinGen CA394364736
- ClinVar RCV003227358
- ClinVar RCV004796787
- Likely pathogenic
- not provided; Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.40
- MetaLR 0.25
- MetaSVM -0.66
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.72
- ClinVar: Likely pathogenic (not provided; Polycystic kidney disease, adult type)
- EBI: Likely pathogenic (in PKD1)
- UniProt: Likely pathogenic (in PKD1)
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)