M1394R (p.Met1394Arg) variant of ABCC8 (Q09428)
M1394R (p.Met1394Arg) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Type 2 diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
M1394R (p.Met1394Arg) variant details
- p.Met1394Arg
- rs2496452499
- ClinGen CA379787876
- ClinVar RCV003472771
- ClinVar RCV003553966
- Likely pathogenic
- not provided; Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.95
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Type 2 diabetes mellitus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)