Y38F (p.Tyr38Phe) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
Y38F (p.Tyr38Phe) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Y38F (p.Tyr38Phe) variant details
- p.Tyr38Phe
- gnomAD 1-55039950-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.16
- MetaSVM -1.01
- CADD 19.80
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Literature evidence available