p.Pro14 Leu15insMetLeu variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
p.Pro14 Leu15insMetLeu in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro14 Leu15insMetLeu variant details
- rs371488778
- gnomAD 1-55039879-A-AATG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 7.81
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)