I69V (p.Ile69Val) variant of RHEB (GTP-binding protein Rheb)
I69V (p.Ile69Val) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I69V (p.Ile69Val) variant details
- p.Ile69Val
- TOPMed rs1294581220
- gnomAD rs1294581220
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.26
- MetaLR 0.22
- MetaSVM -0.79
- CADD 23.50
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available