P6S (p.Pro6Ser) variant of PKD1 (Polycystin-1)
P6S (p.Pro6Ser) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PKD1-related disorder; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- rs1320256969
- ClinGen CA394283264
- ClinVar RCV001755088
- ClinVar RCV002488585
- Uncertain significance
- PKD1-related disorder; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.06
- CADD 24.50
- SIFT 0.02
- ClinVar: Uncertain significance (PKD1-related disorder; Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00027)
- 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)