R1352P (p.Arg1352Pro) variant of ABCC8 (Q09428)
R1352P (p.Arg1352Pro) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R1352P (p.Arg1352Pro) variant details
- p.Arg1352Pro
- rs28936370
- ClinGen CA254629
- ClinVar RCV000009662
- ClinVar RCV001851769
- Pathogenic/Likely pathogenic
- Diabetes mellitus, permanent neonatal 3; Type 2 diabetes mellitus; Diabetes mell
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.95
- CADD 28.70
- PolyPhen-2 1.00
- 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 Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism. (PMID 24814349)
- Cited in: Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to… (PMID 9769320)