F27S (p.Phe27Ser) variant of AKT1 (P31749)
F27S (p.Phe27Ser) 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 0.82 / 1. The record also includes published literature and structural context.
F27S (p.Phe27Ser) variant details
- p.Phe27Ser
- rs2140949629
- ClinGen CA391221725
- ClinVar RCV002419489
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- AlphaMissense 0.96
- MetaLR 0.76
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.81
- 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)