T49I (p.Thr49Ile) variant of COL6A3 (Collagen alpha-3(VI) chain)
T49I (p.Thr49Ile) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T49I (p.Thr49Ile) variant details
- p.Thr49Ile
- 1000Genomes rs200025389
- ExAC rs200025389
- TOPMed rs200025389
- gnomAD rs200025389
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.21
- MetaLR 0.31
- MetaSVM -0.74
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available