Q116E (p.Gln116Glu) variant of GNA13 (Q14344)
Q116E (p.Gln116Glu) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and published literature.
Q116E (p.Gln116Glu) variant details
- p.Gln116Glu
- gnomAD 17-65053666-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.38
- MetaLR 0.61
- MetaSVM -0.08
- CADD 22.00
- PolyPhen-2 0.95
- SIFT 1.00
- Population evidence available
- Literature evidence available