I49L (p.Ile49Leu) variant of TECTA (Alpha-tectorin)
I49L (p.Ile49Leu) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
I49L (p.Ile49Leu) variant details
- p.Ile49Leu
- gnomAD 11-121105911-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.24
- CADD 25.50
- PolyPhen-2 0.93
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available