V90M (p.Val90Met) variant of AKT2 (P31751)
V90M (p.Val90Met) in AKT2 (P31751) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V90M (p.Val90Met) variant details
- p.Val90Met
- rs1160079555
- ClinGen CA405871240
- ClinVar RCV002045984
- TOPMed rs1160079555
- Uncertain significance
- Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.53
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)