T43I (p.Thr43Ile) variant of GNA13 (Q14344)
T43I (p.Thr43Ile) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
T43I (p.Thr43Ile) variant details
- p.Thr43Ile
- TOPMed rs937598382
- gnomAD rs937598382
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.46
- MetaLR 0.66
- MetaSVM 0.05
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.52
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)