P25L (p.Pro25Leu) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
P25L (p.Pro25Leu) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- TOPMed rs1247850588
- gnomAD rs1247850588
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.17
- MetaSVM -0.78
- CADD 16.70
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available