P12T (p.Pro12Thr) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
P12T (p.Pro12Thr) 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 Cardiovascular phenotype; not specified; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- rs968023760
- ClinGen CA22791800
- ClinVar RCV001182227
- ClinVar RCV002451377
- Uncertain significance
- Cardiovascular phenotype; not specified; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.18
- MetaSVM -0.83
- CADD 12.70
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Familial hypercholester)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- 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)