L106I (p.Leu106Ile) variant of GNA13 (Q14344)
L106I (p.Leu106Ile) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
L106I (p.Leu106Ile) variant details
- p.Leu106Ile
- gnomAD 17-65053696-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.79
- MetaLR 0.77
- MetaSVM 0.69
- CADD 25.80
- PolyPhen-2 0.55
- SIFT 0.00
- Population evidence available
- Literature evidence available