L9F (p.Leu9Phe) variant of COL6A2 (Collagen alpha-2(VI) chain)
L9F (p.Leu9Phe) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- gnomAD 21-46111501-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.22
- CADD 18.50
- PolyPhen-2 0.72
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available