P43A (p.Pro43Ala) variant of PKD1 (Polycystin-1)
P43A (p.Pro43Ala) in PKD1 (Polycystin-1) is a missense change. Clinical records from UniProt describe it as polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P43A (p.Pro43Ala) variant details
- p.Pro43Ala
- rs1114167365
- ClinGen CA394282577
- ClinVar RCV000490643
- TOPMed rs1114167365
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.05
- MetaLR 0.08
- MetaSVM -1.06
- CADD 23.20
- PolyPhen-2 0.58
- SIFT 0.10
- UniProt: Polycystic kidney disease, adult type
- Most common in the REMAINING population (allele frequency 0.00097)
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)