T88A (p.Thr88Ala) variant of RHEB (GTP-binding protein Rheb)
T88A (p.Thr88Ala) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
T88A (p.Thr88Ala) variant details
- p.Thr88Ala
- ExAC rs777846252
- gnomAD rs777846252
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.80
- MetaLR 0.40
- MetaSVM -0.25
- CADD 22.60
- PolyPhen-2 0.18
- SIFT 0.02
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available