F27S (p.Phe27Ser) variant of ABCC8 (Q09428)
F27S (p.Phe27Ser) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
F27S (p.Phe27Ser) variant details
- p.Phe27Ser
- rs2496930367
- ClinGen CA379790046
- ClinVar RCV003557578
- UniProt VAR 031351
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine… (PMID 15562009)
- Cited in: Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. (PMID 16357843)