N71S (p.Asn71Ser) variant of AKT2 (P31751)
N71S (p.Asn71Ser) in AKT2 (P31751) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
N71S (p.Asn71Ser) variant details
- p.Asn71Ser
- rs200272953
- ClinGen CA9441945
- ClinVar RCV000964694
- 1000Genomes rs200272953
- Conflicting interpretations
- Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.53
- CADD 22.50
- PolyPhen-2 0.31
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- 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)