D105N (p.Asp105Asn) variant of RHEB (GTP-binding protein Rheb)
D105N (p.Asp105Asn) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
D105N (p.Asp105Asn) variant details
- p.Asp105Asn
- gnomAD 7-151471568-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.44
- MetaLR 0.47
- MetaSVM -0.34
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available