R101W (p.Arg101Trp) variant of AKT2 (P31751)
R101W (p.Arg101Trp) in AKT2 (P31751) is a missense change. Clinical records from ClinVar 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 0.39 / 1. The record also includes population frequency data and structural context.
R101W (p.Arg101Trp) variant details
- p.Arg101Trp
- rs761956794
- cosmic curated COSV10460
- ExAC rs761956794
- TOPMed rs761956794
- Uncertain significance
- Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.31
- CADD 24.20
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available