S8I (p.Ser8Ile) variant of ABCC8 (Q09428)
S8I (p.Ser8Ile) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary hyperinsulinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S8I (p.Ser8Ile) variant details
- p.Ser8Ile
- Ensembl rs1591935147
- Uncertain significance
- Hereditary hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.21
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary hyperinsulinism)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available