H139Y (p.His139Tyr) variant of AKT3 (Q9Y243)
H139Y (p.His139Tyr) in AKT3 (Q9Y243) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
H139Y (p.His139Tyr) variant details
- p.His139Tyr
- rs1173790414
- TOPMed rs1173790414
- NCI-TCGA Cosmic COSV5563
- cosmic curated COSV55636
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- MetaLR 0.07
- MetaSVM -1.05
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available