F49L (p.Phe49Leu) variant of COL6A2 (Collagen alpha-2(VI) chain)
F49L (p.Phe49Leu) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
F49L (p.Phe49Leu) variant details
- p.Phe49Leu
- gnomAD 21-46112010-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.62
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available