P14L (p.Pro14Leu) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
P14L (p.Pro14Leu) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- Ensembl rs201184195
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.14
- MetaSVM -1.00
- CADD 2.23
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available