A67T (p.Ala67Thr) variant of ACAN (Aggrecan core protein)
A67T (p.Ala67Thr) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A67T (p.Ala67Thr) variant details
- p.Ala67Thr
- rs182894280
- ClinGen CA7719168
- cosmic curated COSV10071
- ClinVar RCV000521389
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 20.50
- PolyPhen-2 0.25
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available