S104P (p.Ser104Pro) variant of PKD1 (Polycystin-1)
S104P (p.Ser104Pro) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar 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 0.34 / 1. The record also includes population frequency data and structural context.
S104P (p.Ser104Pro) variant details
- p.Ser104Pro
- Ensembl rs200463151
- Uncertain significance
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.22
- MetaLR 0.37
- MetaSVM -0.09
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (Polycystic kidney disease, adult type)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available