H100N (p.His100Asn) variant of RHEB (GTP-binding protein Rheb)
H100N (p.His100Asn) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
H100N (p.His100Asn) variant details
- p.His100Asn
- gnomAD 7-151471583-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.62
- MetaLR 0.51
- MetaSVM 0.02
- CADD 24.30
- PolyPhen-2 0.59
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available