R1182W (p.Arg1182Trp) variant of ABCC8 (Q09428)
R1182W (p.Arg1182Trp) 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, transient neonatal, 2; Type 2 diabetes mellitus; Hyperinsulin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R1182W (p.Arg1182Trp) variant details
- p.Arg1182Trp
- rs797045209
- ClinGen CA206064
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10021
- Pathogenic/Likely pathogenic
- Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellitus; Hyperinsulin
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 0.63
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellit)
- EBI: Pathogenic (in MODY12 and TNDM2)
- UniProt: Pathogenic (in MODY12 and TNDM2)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Transient neonatal diabetes due to activating mutation in the ABCC8 gene encoding SUR1. (PMID 20092027)
- Cited in: Transient neonatal diabetes mellitus caused by a de novoABCC8 gene mutation. (PMID 21738553)