S92S (p.Ser92Ser) variant of RHEB (GTP-binding protein Rheb)
S92S (p.Ser92Ser) in RHEB (GTP-binding protein Rheb) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S92S (p.Ser92Ser) variant details
- p.Ser92Ser
- gnomAD 7-151471605-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 12.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available