S4Y (p.Ser4Tyr) variant of RHEB (GTP-binding protein Rheb)
S4Y (p.Ser4Tyr) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S4Y (p.Ser4Tyr) variant details
- p.Ser4Tyr
- ExAC rs760928726
- gnomAD rs760928726
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.17
- MetaLR 0.35
- MetaSVM -0.53
- CADD 23.70
- PolyPhen-2 0.05
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available