P25S (p.Pro25Ser) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
P25S (p.Pro25Ser) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- ExAC rs776276715
- TOPMed rs776276715
- gnomAD rs776276715
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.31
- MetaSVM -0.42
- CADD 15.10
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available