S91L (p.Ser91Leu) variant of PKD1 (Polycystin-1)
S91L (p.Ser91Leu) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S91L (p.Ser91Leu) variant details
- p.Ser91Leu
- rs1339097856
- ClinGen CA394396161
- ClinVar RCV002763631
- 1000Genomes rs1339097856
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.14
- MetaLR 0.20
- MetaSVM -0.89
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- 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)