A16S (p.Ala16Ser) variant of RIT1 (GTP-binding protein Rit1)
A16S (p.Ala16Ser) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD 1-155910716-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.03
- CADD 8.51
- PolyPhen-2 0.00
- SIFT 0.77
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available