S6F (p.Ser6Phe) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
S6F (p.Ser6Phe) 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 Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
S6F (p.Ser6Phe) variant details
- p.Ser6Phe
- rs1644584130
- ClinGen CA340482615
- ClinVar RCV001188804
- Ensembl rs1644584130
- Uncertain significance
- Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.23
- MetaSVM -0.86
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)