A116P (p.Ala116Pro) variant of ABCC8 (Q09428)
A116P (p.Ala116Pro) in ABCC8 (Q09428) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HHF1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
A116P (p.Ala116Pro) variant details
- p.Ala116Pro
- rs72559731
- UniProt VAR 031356
- Ensembl rs72559731
- Pathogenic
- in HHF1
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.55
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Structural context available
- Cited in: Molecular biology of adenosine triphosphate-sensitive potassium channels. (PMID 10204114)
- Cited in: Clinical features of 52 neonates with hyperinsulinism. (PMID 10202168)