S16F (p.Ser16Phe) variant of RHEB (GTP-binding protein Rheb)
S16F (p.Ser16Phe) in RHEB (GTP-binding protein Rheb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Seizure; Neurodevelopmental delay. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S16F (p.Ser16Phe) variant details
- p.Ser16Phe
- rs1803142082
- ClinGen CA370068357
- ClinVar RCV001725806
- Ensembl rs1803142082
- Uncertain significance
- Seizure; Neurodevelopmental delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.62
- MetaLR 0.47
- MetaSVM -0.22
- CADD 24.70
- PolyPhen-2 0.09
- SIFT 0.03
- ClinVar: Uncertain significance (Seizure; Neurodevelopmental delay)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available