S99R (p.Ser99Arg) variant of PKD1 (Polycystin-1)
S99R (p.Ser99Arg) 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 0.40 / 1. The record also includes population frequency data and structural context.
S99R (p.Ser99Arg) variant details
- p.Ser99Arg
- ExAC rs762952101
- gnomAD rs762952101
- Uncertain significance
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.34
- MetaLR 0.37
- MetaSVM -0.35
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance (in PKD1)
- UniProt: Uncertain significance (in PKD1)
- Population evidence available
- Structural context available