N119S (p.Asn119Ser) variant of RHEB (GTP-binding protein Rheb)
N119S (p.Asn119Ser) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
N119S (p.Asn119Ser) variant details
- p.Asn119Ser
- gnomAD 7-151471418-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.89
- MetaLR 0.80
- MetaSVM 0.78
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available