T78I (p.Thr78Ile) variant of ABCC8 (Q09428)
T78I (p.Thr78Ile) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
T78I (p.Thr78Ile) variant details
- p.Thr78Ile
- TOPMed rs1176679806
- gnomAD rs1176679806
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.79
- CADD 27.20
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available