L103V (p.Leu103Val) variant of RHEB (GTP-binding protein Rheb)
L103V (p.Leu103Val) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L103V (p.Leu103Val) variant details
- p.Leu103Val
- gnomAD 7-151471574-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.59
- MetaLR 0.39
- MetaSVM -0.44
- CADD 23.20
- PolyPhen-2 0.67
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available