N89T (p.Asn89Thr) variant of PKD1 (Polycystin-1)
N89T (p.Asn89Thr) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N89T (p.Asn89Thr) variant details
- p.Asn89Thr
- rs1434978033
- ClinGen CA394396190
- ClinVar RCV004506361
- TOPMed rs1434978033
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.08
- MetaLR 0.20
- MetaSVM -0.84
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:NORTHERNHAN population (allele frequency 0.05)
- 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)