R8P (p.Arg8Pro) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
R8P (p.Arg8Pro) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R8P (p.Arg8Pro) variant details
- p.Arg8Pro
- gnomAD 1-55039860-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.13
- MetaSVM -1.01
- CADD 17.50
- Population evidence available
- Structural context available
- Literature evidence available