A1492T (p.Ala1492Thr) variant of ABCC8 (Q09428)
A1492T (p.Ala1492Thr) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hyperinsulinism; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
A1492T (p.Ala1492Thr) variant details
- p.Ala1492Thr
- Ensembl rs72559714
- Pathogenic/Likely pathogenic
- Familial hyperinsulinism; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.96
- CADD 27.30
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hyperinsulinism; not provided)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available