D35Y (p.Asp35Tyr) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
D35Y (p.Asp35Tyr) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of PCSK9-related disorder; Cardiovascular phenotype; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D35Y (p.Asp35Tyr) variant details
- p.Asp35Tyr
- rs764603059
- ClinGen CA034785
- ClinVar RCV000417231
- ClinVar RCV000775254
- Conflicting interpretations
- PCSK9-related disorder; Cardiovascular phenotype; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.19
- MetaSVM -0.76
- CADD 22.30
- ClinVar: Conflicting classifications of pathogenicity (PCSK9-related disorder; Cardiovascular phenotype; Familial hyper)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)