M28L (p.Met28Leu) variant of TECTA (Alpha-tectorin)
M28L (p.Met28Leu) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
M28L (p.Met28Leu) variant details
- p.Met28Leu
- gnomAD 11-121105848-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.14
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available