D66E (p.Asp66Glu) variant of RIT1 (GTP-binding protein Rit1)
D66E (p.Asp66Glu) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D66E (p.Asp66Glu) variant details
- p.Asp66Glu
- gnomAD 1-155904770-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.26
- MetaLR 0.18
- MetaSVM -0.92
- CADD 19.00
- PolyPhen-2 0.15
- SIFT 0.15
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available