P12S (p.Pro12Ser) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
P12S (p.Pro12Ser) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- gnomAD 1-55039871-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.18
- MetaSVM -0.84
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available