W79C (p.Trp79Cys) variant of AKT3 (Q9Y243)
W79C (p.Trp79Cys) in AKT3 (Q9Y243) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature.
W79C (p.Trp79Cys) variant details
- p.Trp79Cys
- rs2147921624
- ClinGen CA345669257
- ClinVar RCV002467187
- ClinGen CA345669259
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- AlphaMissense 0.99
- MetaLR 0.39
- MetaSVM -0.21
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.68
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: MPPH Syndrome. (PMID 27854409)