S92V (p.Ser92Val) variant of RHEB (GTP-binding protein Rheb)
S92V (p.Ser92Val) in RHEB (GTP-binding protein Rheb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
S92V (p.Ser92Val) variant details
- p.Ser92Val
- gnomAD 7-151477333-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.821
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available