P68T (p.Pro68Thr) variant of AKT2 (P31751)
P68T (p.Pro68Thr) in AKT2 (P31751) 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 0.39 / 1. The record also includes published literature and structural context.
P68T (p.Pro68Thr) variant details
- p.Pro68Thr
- rs2145293995
- ClinGen CA405871556
- ClinVar RCV003208028
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- AlphaMissense 0.99
- MetaLR 0.24
- MetaSVM -0.66
- PolyPhen-2 0.70
- SIFT 0.08
- MutPred 0.54
- 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)