A63D (p.Ala63Asp) variant of ACAN (Aggrecan core protein)
A63D (p.Ala63Asp) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Spondyloepimetaphyseal dysplasia, aggrecan type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
A63D (p.Ala63Asp) variant details
- p.Ala63Asp
- rs1245147885
- ClinGen CA393714906
- ClinVar RCV003340686
- NCI-TCGA TCGA novel
- Uncertain significance
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- AlphaMissense 0.32
- MetaLR 0.03
- MetaSVM -1.13
- PolyPhen-2 0.89
- SIFT 0.06
- EVE 0.13
- ClinVar: Uncertain significance (Spondyloepimetaphyseal dysplasia, aggrecan type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available