I19V (p.Ile19Val) variant of AKT1 (P31749)
I19V (p.Ile19Val) in AKT1 (P31749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cowden syndrome 6; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1.
I19V (p.Ile19Val) variant details
- p.Ile19Val
- rs2140949945
- ClinGen CA391221838
- ClinVar RCV003540323
- Uncertain significance
- Cowden syndrome 6; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.95
- MetaLR 0.28
- MetaSVM -0.54
- PolyPhen-2 1.00
- SIFT 0.06
- MutPred 0.55
- ClinVar: Uncertain significance (Cowden syndrome 6; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance