P12Q (p.Pro12Gln) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
P12Q (p.Pro12Gln) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P12Q (p.Pro12Gln) variant details
- p.Pro12Gln
- gnomAD 1-55039872-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.14
- MetaSVM -0.96
- CADD 0.30
- Population evidence available
- Structural context available
- Literature evidence available