T3N (p.Thr3Asn) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
T3N (p.Thr3Asn) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypercholesterolemia, autosomal dominant, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
T3N (p.Thr3Asn) variant details
- p.Thr3Asn
- rs966100677
- ClinGen CA22791778
- ClinVar RCV001968859
- TOPMed rs966100677
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- ESM-1b 0.41
- AlphaMissense 0.09
- MetaLR 0.15
- MetaSVM -0.97
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Hypercholesterolemia, autosomal dominant, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)