N50Y (p.Asn50Tyr) variant of RHEB (GTP-binding protein Rheb)
N50Y (p.Asn50Tyr) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
N50Y (p.Asn50Tyr) variant details
- p.Asn50Tyr
- 1000Genomes rs565872320
- ExAC rs565872320
- gnomAD rs565872320
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.80
- MetaLR 0.60
- MetaSVM 0.30
- CADD 27.10
- SIFT 0.00
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available