A1390P (p.Ala1390Pro) variant of ABCC8 (Q09428)
A1390P (p.Ala1390Pro) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperinsulinemic hypoglycemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
A1390P (p.Ala1390Pro) variant details
- p.Ala1390Pro
- rs2496452651
- ClinGen CA379788035
- ClinVar RCV002306230
- Likely pathogenic
- Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.96
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyperinsulinemic hypoglycemia, familial, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)