S5T (p.Ser5Thr) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
S5T (p.Ser5Thr) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S5T (p.Ser5Thr) variant details
- p.Ser5Thr
- gnomAD 1-55039851-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.14
- MetaSVM -0.99
- CADD 11.30
- Population evidence available
- Structural context available
- Literature evidence available