G1255S (p.Gly1255Ser) variant of ABCC8 (Q09428)
G1255S (p.Gly1255Ser) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary hyperinsulinism; not provided; Diabetes mellitus, permanent neonatal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G1255S (p.Gly1255Ser) variant details
- p.Gly1255Ser
- rs1185034563
- ClinGen CA379793654
- cosmic curated COSV10021
- ClinVar RCV000667689
- Pathogenic/Likely pathogenic
- Hereditary hyperinsulinism; not provided; Diabetes mellitus, permanent neonatal
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.87
- CADD 27.40
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary hyperinsulinism; not provided; Diabetes mellitus, per)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)