R29L (p.Arg29Leu) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
R29L (p.Arg29Leu) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R29L (p.Arg29Leu) variant details
- p.Arg29Leu
- gnomAD 1-55039923-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.15
- MetaSVM -1.02
- CADD 9.64
- Population evidence available
- Structural context available
- Literature evidence available