I54I (p.Ile54Ile) variant of RIT1 (GTP-binding protein Rit1)
I54I (p.Ile54Ile) in RIT1 (GTP-binding protein Rit1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
I54I (p.Ile54Ile) variant details
- p.Ile54Ile
- rs1474550449
- gnomAD 1-155910451-A-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.148
- CADD 9.47
- Population evidence available
- Structural context available
- Literature evidence available