T31I (p.Thr31Ile) variant of COL6A2 (Collagen alpha-2(VI) chain)
T31I (p.Thr31Ile) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T31I (p.Thr31Ile) variant details
- p.Thr31Ile
- gnomAD 21-46111568-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.16
- CADD 6.22
- PolyPhen-2 0.04
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available