E67K (p.Glu67Lys) variant of RIT1 (GTP-binding protein Rit1)
E67K (p.Glu67Lys) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E67K (p.Glu67Lys) variant details
- p.Glu67Lys
- cosmic curated COSV64171
- TOPMed rs746233241
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.48
- MetaLR 0.27
- MetaSVM -0.39
- CADD 25.30
- PolyPhen-2 0.89
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available