A58V (p.Ala58Val) variant of AKT2 (P31751)
A58V (p.Ala58Val) in AKT2 (P31751) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.39 / 1. The record also includes published literature and structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- rs2145306024
- ClinGen CA405872690
- ClinVar RCV002010421
- Ensembl rs2145306024
- Likely benign
- Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- AlphaMissense 0.47
- MetaLR 0.21
- MetaSVM -0.88
- PolyPhen-2 0.17
- SIFT 0.22
- MutPred 0.57
- ClinVar: Likely benign (Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body)
- EBI: Likely benign
- UniProt: Likely benign
- 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)