W10R (p.Trp10Arg) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
W10R (p.Trp10Arg) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
W10R (p.Trp10Arg) variant details
- p.Trp10Arg
- gnomAD 1-55039865-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.10
- MetaSVM -0.94
- CADD 8.88
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Literature evidence available