S5N (p.Ser5Asn) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
S5N (p.Ser5Asn) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S5N (p.Ser5Asn) variant details
- p.Ser5Asn
- gnomAD 1-55039851-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.09
- ESM-1b 0.76
- AlphaMissense 0.13
- MetaLR 0.18
- MetaSVM -0.93
- CADD 13.00
- Population evidence available
- Structural context available
- Literature evidence available