M1R (p.Met1Arg) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
M1R (p.Met1Arg) 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; Hypercholesterolemia, autosomal dominant, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs1209186979
- ClinGen CA340482584
- ClinVar RCV001178472
- ClinVar RCV004807333
- Uncertain significance
- Familial hypercholesterolemia; Hypercholesterolemia, autosomal dominant, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.23
- MetaSVM -0.79
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hypercholesterolemia; Hypercholesterolemia, autosomal d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)