A44T (p.Ala44Thr) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A44T (p.Ala44Thr) 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 and structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- Ensembl rs773660398
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.14
- MetaSVM -0.99
- CADD 15.70
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available