A63T (p.Ala63Thr) variant of ACAN (Aggrecan core protein)
A63T (p.Ala63Thr) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A63T (p.Ala63Thr) variant details
- p.Ala63Thr
- rs749720584
- ClinGen CA7719164
- NCI-TCGA Cosmic COSV6136
- cosmic curated COSV61368
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- AlphaMissense 0.34
- MetaLR 0.02
- MetaSVM -0.92
- CADD 24.00
- PolyPhen-2 0.44
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available