R80W (p.Arg80Trp) variant of PKD1 (Polycystin-1)
R80W (p.Arg80Trp) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R80W (p.Arg80Trp) variant details
- p.Arg80Trp
- rs551353498
- ClinGen CA7833767
- cosmic curated COSV51909
- ClinVar RCV000712600
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.12
- MetaLR 0.25
- MetaSVM -0.86
- CADD 22.40
- PolyPhen-2 0.09
- SIFT 0.08
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:STU population (allele frequency 0.015)
- Structural context available