T2I (p.Thr2Ile) variant of ACAN (Aggrecan core protein)
T2I (p.Thr2Ile) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar 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.
T2I (p.Thr2Ile) variant details
- p.Thr2Ile
- ExAC rs770071622
- TOPMed rs770071622
- gnomAD rs770071622
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 24.70
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available