V1380F (p.Val1380Phe) variant of ACAN (Aggrecan core protein)
V1380F (p.Val1380Phe) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Spondyloepimetaphyseal dysplasia, aggrecan type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature.
V1380F (p.Val1380Phe) variant details
- p.Val1380Phe
- rs1567185220
- ClinGen CA393721235
- ClinVar RCV000757905
- Ensembl rs1567185220
- Pathogenic
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.51
- MetaLR 0.75
- MetaSVM 0.01
- SIFT 0.56
- EVE 0.13
- MutPred 0.16
- ClinVar: Pathogenic (Spondyloepimetaphyseal dysplasia, aggrecan type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported. (PMID 30124491)