S75F (p.Ser75Phe) variant of PKD1 (Polycystin-1)
S75F (p.Ser75Phe) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S75F (p.Ser75Phe) variant details
- p.Ser75Phe
- UniProt VAR 011031
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.74
- MetaLR 0.87
- MetaSVM 0.89
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type)
- EBI: Pathogenic (in PKD1)
- UniProt: Pathogenic (in PKD1)
- Population evidence available
- Structural context available
- Cited in: Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. (PMID 11115377)
- Cited in: Mutational analysis within the 3' region of the PKD1 gene. (PMID 10200984)