R33T (p.Arg33Thr) variant of COL6A2 (Collagen alpha-2(VI) chain)
R33T (p.Arg33Thr) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R33T (p.Arg33Thr) variant details
- p.Arg33Thr
- gnomAD 21-46111574-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.38
- CADD 19.50
- PolyPhen-2 0.02
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available