S1386F (p.Ser1386Phe) variant of ABCC8 (Q09428)
S1386F (p.Ser1386Phe) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hyperinsulinemic hypoglycemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S1386F (p.Ser1386Phe) variant details
- p.Ser1386Phe
- rs72559718
- ClinGen CA218408231
- ClinVar RCV000517310
- ClinVar RCV004577338
- Uncertain significance
- not provided; Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism. (PMID 24814349)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)