V57I (p.Val57Ile) variant of AKT2 (P31751)
V57I (p.Val57Ile) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V57I (p.Val57Ile) variant details
- p.Val57Ile
- rs1407888862
- ClinGen CA405872708
- NCI-TCGA Cosmic COSV1002
- NCI-TCGA Cosmic COSV6090
- Uncertain significance
- Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.34
- CADD 22.60
- PolyPhen-2 0.26
- SIFT 0.23
- ClinVar: Uncertain significance (Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)