H50P (p.His50Pro) variant of RIT1 (GTP-binding protein Rit1)
H50P (p.His50Pro) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
H50P (p.His50Pro) variant details
- p.His50Pro
- gnomAD 1-155910464-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.73
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available