A36A (p.Ala36Ala) variant of RIT1 (GTP-binding protein Rit1)
A36A (p.Ala36Ala) in RIT1 (GTP-binding protein Rit1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A36A (p.Ala36Ala) variant details
- p.Ala36Ala
- rs962881455
- gnomAD 1-155910505-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 17.50
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available