G25V (p.Gly25Val) variant of ABCC8 (Q09428)
G25V (p.Gly25Val) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperinsulinemic hypoglycemia, familial, 1; Transitory neonatal diabetes mellitu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G25V (p.Gly25Val) variant details
- p.Gly25Val
- rs763302648
- ClinGen CA5903988
- ClinVar RCV001108381
- ClinVar RCV001108382
- Uncertain significance
- Hyperinsulinemic hypoglycemia, familial, 1; Transitory neonatal diabetes mellitu
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.43
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Uncertain significance (Hyperinsulinemic hypoglycemia, familial, 1; Transitory neonatal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)