T17S (p.Thr17Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
T17S (p.Thr17Ser) in COL6A1 (Collagen alpha-1(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
T17S (p.Thr17Ser) variant details
- p.Thr17Ser
- rs747419878
- gnomAD 21-45981898-GAC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available