G1554V (p.Gly1554Val) variant of ABCC8 (Q09428)
G1554V (p.Gly1554Val) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Leucine-induced hypoglycemia; Diabetes mellitus, transient neonatal, 2; Type 2 d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G1554V (p.Gly1554Val) variant details
- p.Gly1554Val
- rs760494159
- ClinGen CA5902387
- NCI-TCGA Cosmic COSV5685
- cosmic curated COSV56850
- Pathogenic/Likely pathogenic
- Leucine-induced hypoglycemia; Diabetes mellitus, transient neonatal, 2; Type 2 d
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.97
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Leucine-induced hypoglycemia; Diabetes mellitus, transient neona)
- 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)