N50S (p.Asn50Ser) variant of RHEB (GTP-binding protein Rheb)
N50S (p.Asn50Ser) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
N50S (p.Asn50Ser) variant details
- p.Asn50Ser
- TOPMed rs1278044521
- gnomAD rs1278044521
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.33
- MetaLR 0.39
- MetaSVM -0.43
- CADD 23.70
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available