T127S (p.Thr127Ser) variant of GNA13 (Q14344)
T127S (p.Thr127Ser) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and published literature.
T127S (p.Thr127Ser) variant details
- p.Thr127Ser
- gnomAD 17-65053633-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.40
- MetaLR 0.60
- MetaSVM 0.12
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.47
- Population evidence available
- Literature evidence available