Q117L (p.Gln117Leu) variant of GNA13 (Q14344)
Q117L (p.Gln117Leu) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and published literature.
Q117L (p.Gln117Leu) variant details
- p.Gln117Leu
- gnomAD 17-65053662-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.21
- MetaLR 0.49
- MetaSVM -0.66
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Literature evidence available