E40V (p.Glu40Val) variant of AKT1 (P31749)
E40V (p.Glu40Val) 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 0.41 / 1. The record also includes published literature.
E40V (p.Glu40Val) variant details
- p.Glu40Val
- rs2140949199
- ClinGen CA391221563
- ClinVar RCV003344154
- Ensembl rs2140949199
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.61
- MetaLR 0.20
- MetaSVM -0.72
- PolyPhen-2 0.64
- SIFT 0.05
- MutPred 0.57
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)