R29S (p.Arg29Ser) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
R29S (p.Arg29Ser) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
R29S (p.Arg29Ser) variant details
- p.Arg29Ser
- gnomAD rs866597555
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0998
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.14
- MetaSVM -0.93
- CADD 2.84
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available