D56V (p.Asp56Val) variant of RIT1 (GTP-binding protein Rit1)
D56V (p.Asp56Val) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
D56V (p.Asp56Val) variant details
- p.Asp56Val
- gnomAD 1-155904801-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.86
- MetaLR 0.56
- MetaSVM 0.24
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available