N119K (p.Asn119Lys) variant of RHEB (GTP-binding protein Rheb)
N119K (p.Asn119Lys) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
N119K (p.Asn119Lys) variant details
- p.Asn119Lys
- gnomAD 7-151471417-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.82
- MetaLR 0.87
- MetaSVM 0.92
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available