T17I (p.Thr17Ile) variant of COL6A1 (Collagen alpha-1(VI) chain)
T17I (p.Thr17Ile) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T17I (p.Thr17Ile) variant details
- p.Thr17Ile
- gnomAD 21-45981900-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.14
- MetaLR 0.37
- MetaSVM -0.77
- CADD 7.00
- PolyPhen-2 0.01
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available