F148L (p.Phe148Leu) variant of AKT3 (Q9Y243)
F148L (p.Phe148Leu) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
F148L (p.Phe148Leu) variant details
- p.Phe148Leu
- rs2147812432
- ClinGen CA345669908
- ClinVar RCV001768983
- Ensembl rs2147812432
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- MetaLR 0.15
- MetaSVM -0.94
- CADD 28.80
- PolyPhen-2 0.63
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available