P12L (p.Pro12Leu) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
P12L (p.Pro12Leu) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Hypercholesterolemia, autosomal dominant, 3; Cardiovascular pheno. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- rs760558712
- ClinGen CA041578
- ClinVar RCV001190679
- ClinVar RCV001225860
- Conflicting interpretations
- not specified; Hypercholesterolemia, autosomal dominant, 3; Cardiovascular pheno
- Missense
- Variant Prioritization Score for Impact Estimate 0.0916
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.10
- MetaSVM -0.96
- CADD 0.11
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hypercholesterolemia, autosomal dominant, 3; Card)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHB population (allele frequency 0.015)
- 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)