P9T (p.Pro9Thr) variant of COL6A1 (Collagen alpha-1(VI) chain)
P9T (p.Pro9Thr) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P9T (p.Pro9Thr) variant details
- p.Pro9Thr
- gnomAD 21-45981875-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.23
- MetaLR 0.34
- MetaSVM -0.81
- CADD 9.26
- PolyPhen-2 0.01
- SIFT 0.74
- Population evidence available
- Structural context available
- Literature evidence available