M115I (p.Met115Ile) variant of RHEB (GTP-binding protein Rheb)
M115I (p.Met115Ile) in RHEB (GTP-binding protein Rheb) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
M115I (p.Met115Ile) variant details
- p.Met115Ile
- Ensembl rs1802159654
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.28
- MetaLR 0.17
- MetaSVM -0.89
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available