Y38C (p.Tyr38Cys) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
Y38C (p.Tyr38Cys) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypercholesterolemia, autosomal dominant, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Y38C (p.Tyr38Cys) variant details
- p.Tyr38Cys
- rs2523164477
- ClinGen CA340482801
- ClinVar RCV003500192
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.29
- ESM-1b 0.66
- AlphaMissense 0.17
- MetaLR 0.17
- MetaSVM -0.96
- CADD 22.60
- ClinVar: Uncertain significance (Hypercholesterolemia, autosomal dominant, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)