N119D (p.Asn119Asp) variant of RHEB (GTP-binding protein Rheb)
N119D (p.Asn119Asp) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
N119D (p.Asn119Asp) variant details
- p.Asn119Asp
- gnomAD 7-151471419-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.89
- MetaLR 0.89
- MetaSVM 1.03
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available