V187D (p.Val187Asp) variant of ABCC8 (Q09428)
V187D (p.Val187Asp) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Diabetes mellitus, permanent neonatal 3; Type 2 diabetes mellitus; Diabetes mell. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V187D (p.Val187Asp) variant details
- p.Val187Asp
- rs137852672
- ClinGen CA254635
- ClinVar RCV000009667
- ClinVar RCV000723825
- Pathogenic/Likely pathogenic
- Diabetes mellitus, permanent neonatal 3; Type 2 diabetes mellitus; Diabetes mell
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.81
- CADD 27.30
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Diabetes mellitus, permanent neonatal 3; Type 2 diabetes mellitu)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0028)
- Structural context available
- Cited in: A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic… (PMID 10334322)
- Cited in: Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism. (PMID 12364426)