N119I (p.Asn119Ile) variant of RHEB (GTP-binding protein Rheb)
N119I (p.Asn119Ile) in RHEB (GTP-binding protein Rheb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
N119I (p.Asn119Ile) variant details
- p.Asn119Ile
- gnomAD 7-151471419-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available