M80R (p.Met80Arg) variant of ABCC8 (Q09428)
M80R (p.Met80Arg) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
M80R (p.Met80Arg) variant details
- p.Met80Arg
- rs797045208
- ClinGen CA277044
- ClinVar RCV000192892
- ClinVar RCV005042409
- Conflicting interpretations
- Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellitus; Hyperinsulin
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.56
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellit)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)