T3I (p.Thr3Ile) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
T3I (p.Thr3Ile) 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; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- rs966100677
- ClinGen CA340482597
- ClinVar RCV004012902
- ClinVar RCV005403372
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, 3; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.15
- MetaSVM -0.97
- CADD 16.20
- ClinVar: Uncertain significance (Hypercholesterolemia, autosomal dominant, 3; Familial hyperchole)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)