T48I (p.Thr48Ile) variant of ACAN (Aggrecan core protein)
T48I (p.Thr48Ile) 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 0.66 / 1. The record also includes population frequency data and structural context.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- rs1279018978
- ClinGen CA393714811
- ClinVar RCV003712116
- TOPMed rs1279018978
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 24.10
- PolyPhen-2 0.67
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available