I108L (p.Ile108Leu) variant of GNA13 (Q14344)
I108L (p.Ile108Leu) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and published literature.
I108L (p.Ile108Leu) variant details
- p.Ile108Leu
- gnomAD 17-65053690-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.67
- MetaLR 0.67
- MetaSVM 0.33
- CADD 22.90
- PolyPhen-2 0.24
- SIFT 0.09
- Population evidence available
- Literature evidence available