S6T (p.Ser6Thr) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
S6T (p.Ser6Thr) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S6T (p.Ser6Thr) variant details
- p.Ser6Thr
- gnomAD 1-55039853-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.19
- MetaSVM -0.82
- CADD 7.41
- Population evidence available
- Structural context available
- Literature evidence available