S1687R (p.Ser1687Arg) variant of ACAN (Aggrecan core protein)
S1687R (p.Ser1687Arg) 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 0.26 / 1. The record also includes published literature.
S1687R (p.Ser1687Arg) variant details
- p.Ser1687Arg
- rs1567186585
- ClinGen CA393723778
- ClinVar RCV000757906
- Ensembl rs1567186585
- Pathogenic
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- AlphaMissense 0.71
- MetaLR 0.06
- MetaSVM -1.12
- SIFT 0.00
- EVE 0.13
- MutPred 0.23
- 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)