Q31R (p.Gln31Arg) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
Q31R (p.Gln31Arg) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Q31R (p.Gln31Arg) variant details
- p.Gln31Arg
- gnomAD 1-55039929-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.14
- MetaSVM -0.97
- CADD 12.50
- Population evidence available
- Structural context available
- Literature evidence available