P25A (p.Pro25Ala) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
P25A (p.Pro25Ala) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P25A (p.Pro25Ala) variant details
- p.Pro25Ala
- ExAC rs776276715
- TOPMed rs776276715
- gnomAD rs776276715
- Likely benign
- Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.23
- MetaSVM -0.70
- CADD 14.00
- ClinVar: Likely benign (Familial hypercholesterolemia)
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available