G1383R (p.Gly1383Arg) variant of ABCC8 (Q09428)
G1383R (p.Gly1383Arg) 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; Hyperinsulinemic hypoglycemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G1383R (p.Gly1383Arg) variant details
- p.Gly1383Arg
- rs748233295
- ClinGen CA379788258
- ClinVar RCV003686414
- ClinGen CA5902549
- Likely pathogenic
- not provided; Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.98
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)