Q31K (p.Gln31Lys) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
Q31K (p.Gln31Lys) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q31K (p.Gln31Lys) variant details
- p.Gln31Lys
- gnomAD 1-55039928-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.06
- ESM-1b 0.10
- AlphaMissense 0.10
- MetaLR 0.18
- MetaSVM -0.91
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available