F73I (p.Phe73Ile) variant of COL6A2 (Collagen alpha-2(VI) chain)
F73I (p.Phe73Ile) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
F73I (p.Phe73Ile) variant details
- p.Phe73Ile
- gnomAD 21-46112080-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.84
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available