I89T (p.Ile89Thr) variant of ABCC8 (Q09428)
I89T (p.Ile89Thr) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
I89T (p.Ile89Thr) variant details
- p.Ile89Thr
- TOPMed rs1429527957
- gnomAD rs1429527957
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.95
- CADD 25.90
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available