T76K (p.Thr76Lys) variant of RIT1 (GTP-binding protein Rit1)
T76K (p.Thr76Lys) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
T76K (p.Thr76Lys) variant details
- p.Thr76Lys
- gnomAD 1-155904741-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.92
- MetaLR 0.89
- MetaSVM 1.05
- CADD 28.20
- PolyPhen-2 0.95
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available