E95K (p.Glu95Lys) variant of AKT2 (P31751)
E95K (p.Glu95Lys) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E95K (p.Glu95Lys) variant details
- p.Glu95Lys
- rs374073998
- ClinGen CA9441938
- cosmic curated COSV60907
- ClinVar RCV003780977
- Uncertain significance
- Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.73
- CADD 25.00
- PolyPhen-2 0.78
- SIFT 0.02
- ClinVar: Uncertain significance (Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- 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)