Y14C (p.Tyr14Cys) variant of RHEB (GTP-binding protein Rheb)
Y14C (p.Tyr14Cys) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
Y14C (p.Tyr14Cys) variant details
- p.Tyr14Cys
- gnomAD rs1360165609
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.55
- MetaLR 0.49
- MetaSVM -0.18
- CADD 25.50
- PolyPhen-2 0.94
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available