Y58H (p.Tyr58His) variant of RIT1 (GTP-binding protein Rit1)
Y58H (p.Tyr58His) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Y58H (p.Tyr58His) variant details
- p.Tyr58His
- gnomAD 1-155904796-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.91
- MetaLR 0.59
- MetaSVM 0.30
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available