D65Y (p.Asp65Tyr) variant of RHEB (GTP-binding protein Rheb)
D65Y (p.Asp65Tyr) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
D65Y (p.Asp65Tyr) variant details
- p.Asp65Tyr
- gnomAD 7-151477415-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.86
- MetaLR 0.64
- MetaSVM 0.40
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available