A30T (p.Ala30Thr) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A30T (p.Ala30Thr) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- gnomAD 1-55039925-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.17
- MetaSVM -0.85
- CADD 19.70
- Population evidence available
- Structural context available
- Literature evidence available