K53E (p.Lys53Glu) variant of GNAS (P63092)
K53E (p.Lys53Glu) in GNAS (P63092) 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 0.90 / 1. The record also includes structural context.
K53E (p.Lys53Glu) variant details
- p.Lys53Glu
- rs2146005743
- ClinGen CA409449596
- ClinVar RCV001994567
- NCI-TCGA TCGA novel
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available