I36F (p.Ile36Phe) variant of AKT1 (P31749)
I36F (p.Ile36Phe) in AKT1 (P31749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
I36F (p.Ile36Phe) variant details
- p.Ile36Phe
- rs781339141
- ClinGen CA391221610
- ClinVar RCV002410959
- ExAC rs781339141
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.09
- MetaLR 0.11
- MetaSVM -1.02
- PolyPhen-2 0.20
- SIFT 0.32
- MutPred 0.51
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)