S75C (p.Ser75Cys) variant of RHEB (GTP-binding protein Rheb)
S75C (p.Ser75Cys) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S75C (p.Ser75Cys) variant details
- p.Ser75Cys
- ExAC rs771041474
- gnomAD rs771041474
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.65
- MetaLR 0.31
- MetaSVM -0.36
- CADD 23.20
- PolyPhen-2 0.37
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available