M115R (p.Met115Arg) variant of RHEB (GTP-binding protein Rheb)
M115R (p.Met115Arg) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
M115R (p.Met115Arg) variant details
- p.Met115Arg
- gnomAD 7-151471430-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.90
- MetaLR 0.51
- MetaSVM 0.13
- CADD 28.90
- PolyPhen-2 0.41
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available