A4P (p.Ala4Pro) variant of PKD1 (Polycystin-1)
A4P (p.Ala4Pro) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A4P (p.Ala4Pro) variant details
- p.Ala4Pro
- rs2544960800
- ClinGen CA394283314
- ClinVar RCV002470556
- Uncertain significance
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.04
- CADD 21.40
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)