I108T (p.Ile108Thr) variant of GNA13 (Q14344)
I108T (p.Ile108Thr) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data.
I108T (p.Ile108Thr) variant details
- p.Ile108Thr
- TOPMed rs1367435540
- gnomAD rs1367435540
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.94
- MetaLR 0.84
- MetaSVM 0.90
- CADD 27.30
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 7.2e-05)