T64I (p.Thr64Ile) variant of ABCC8 (Q09428)
T64I (p.Thr64Ile) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
T64I (p.Thr64Ile) variant details
- p.Thr64Ile
- TOPMed rs1848681790
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.71
- CADD 24.60
- PolyPhen-2 0.90
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available