D49E (p.Asp49Glu) variant of RIT1 (GTP-binding protein Rit1)
D49E (p.Asp49Glu) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D49E (p.Asp49Glu) variant details
- p.Asp49Glu
- gnomAD 1-155910466-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.40
- CADD 0.09
- PolyPhen-2 0.12
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available