Y35N (p.Tyr35Asn) variant of RHEB (GTP-binding protein Rheb)
Y35N (p.Tyr35Asn) in RHEB (GTP-binding protein Rheb) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
Y35N (p.Tyr35Asn) variant details
- p.Tyr35Asn
- rs1057519949
- NCI-TCGA Cosmic COSV5126
- Ensembl rs1057519949
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- AlphaMissense 0.98
- MetaLR 0.74
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available