E40V (p.Glu40Val) variant of RHEB (GTP-binding protein Rheb)
E40V (p.Glu40Val) in RHEB (GTP-binding protein Rheb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hemimegalencephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
E40V (p.Glu40Val) variant details
- p.Glu40Val
- rs1554438588
- ClinGen CA370052603
- NCI-TCGA Cosmic COSV5126
- ClinVar RCV000656704
- Likely pathogenic
- Hemimegalencephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- AlphaMissense 0.99
- MetaLR 0.69
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Hemimegalencephaly)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available