S6A (p.Ser6Ala) variant of RHEB (GTP-binding protein Rheb)
S6A (p.Ser6Ala) 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.
S6A (p.Ser6Ala) variant details
- p.Ser6Ala
- ExAC rs773531665
- gnomAD rs773531665
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.27
- MetaLR 0.28
- MetaSVM -0.63
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available