Y38H (p.Tyr38His) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
Y38H (p.Tyr38His) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Y38H (p.Tyr38His) variant details
- p.Tyr38His
- TOPMed rs971757977
- gnomAD rs971757977
- Uncertain significance
- Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.14
- MetaSVM -1.03
- CADD 16.10
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available