Q72K (p.Gln72Lys) variant of RHEB (GTP-binding protein Rheb)
Q72K (p.Gln72Lys) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q72K (p.Gln72Lys) variant details
- p.Gln72Lys
- gnomAD 7-151477394-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.40
- MetaLR 0.22
- MetaSVM -0.77
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available