L116F (p.Leu116Phe) variant of RHEB (GTP-binding protein Rheb)
L116F (p.Leu116Phe) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L116F (p.Leu116Phe) variant details
- p.Leu116Phe
- gnomAD 7-151471426-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.78
- MetaLR 0.79
- MetaSVM 0.76
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available