T127I (p.Thr127Ile) variant of GNA13 (Q14344)
T127I (p.Thr127Ile) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
T127I (p.Thr127Ile) variant details
- p.Thr127Ile
- gnomAD 17-65053632-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.58
- MetaLR 0.73
- MetaSVM 0.37
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.04
- Population evidence available
- Literature evidence available