R15H (p.Arg15His) variant of AKT2 (P31751)
R15H (p.Arg15His) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R15H (p.Arg15His) variant details
- p.Arg15His
- rs1976263420
- ClinGen CA405874454
- ClinVar RCV001335851
- ClinVar RCV003770860
- Uncertain significance
- Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.74
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)