P35S (p.Pro35Ser) variant of PKD1 (Polycystin-1)
P35S (p.Pro35Ser) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- rs1016742393
- ClinGen CA276756574
- ClinVar RCV004506323
- 1000Genomes rs1016742393
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.01
- MetaLR 0.05
- MetaSVM -1.01
- CADD 12.90
- PolyPhen-2 0.05
- SIFT 0.84
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)