L66P (p.Leu66Pro) variant of COL6A2 (Collagen alpha-2(VI) chain)
L66P (p.Leu66Pro) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L66P (p.Leu66Pro) variant details
- p.Leu66Pro
- gnomAD 21-46112060-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.92
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available