I89M (p.Ile89Met) variant of ABCC8 (Q09428)
I89M (p.Ile89Met) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
I89M (p.Ile89Met) variant details
- p.Ile89Met
- rs748024592
- ClinGen CA379787377
- ClinVar RCV003332029
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.71
- CADD 22.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available