G228D (p.Gly228Asp) variant of ABCC8 (Q09428)
G228D (p.Gly228Asp) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant ABCC8-related disorders; not provided; Familial hyperinsulini. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G228D (p.Gly228Asp) variant details
- p.Gly228Asp
- rs863225280
- ClinGen CA279580
- ClinVar RCV000201871
- ClinVar RCV000590369
- Pathogenic/Likely pathogenic
- Autosomal dominant ABCC8-related disorders; not provided; Familial hyperinsulini
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.61
- CADD 22.10
- PolyPhen-2 0.20
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant ABCC8-related disorders; not provided; Famili)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)