L116S (p.Leu116Ser) variant of RHEB (GTP-binding protein Rheb)
L116S (p.Leu116Ser) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
L116S (p.Leu116Ser) variant details
- p.Leu116Ser
- 1000Genomes rs556268622
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.97
- MetaLR 0.83
- MetaSVM 0.93
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available