Y35S (p.Tyr35Ser) variant of RHEB (GTP-binding protein Rheb)
Y35S (p.Tyr35Ser) in RHEB (GTP-binding protein Rheb) 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 0.71 / 1. The record also includes structural context.
Y35S (p.Tyr35Ser) variant details
- p.Tyr35Ser
- rs1057519950
- ClinGen CA370052638
- ClinVar RCV002278969
- gnomAD rs1057519950
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- AlphaMissense 0.95
- MetaLR 0.64
- MetaSVM 0.39
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available