T5I (p.Thr5Ile) variant of COL6A2 (Collagen alpha-2(VI) chain)
T5I (p.Thr5Ile) in COL6A2 (Collagen alpha-2(VI) chain) 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 0.22 / 1. The record also includes population frequency data and structural context.
T5I (p.Thr5Ile) variant details
- p.Thr5Ile
- rs886043160
- ClinGen CA10605186
- ClinVar RCV000398769
- TOPMed rs886043160
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.19
- CADD 8.79
- PolyPhen-2 0.01
- SIFT 0.44
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available