A29T (p.Ala29Thr) variant of RIT1 (GTP-binding protein Rit1)
A29T (p.Ala29Thr) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- gnomAD 1-155910677-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.28
- CADD 23.70
- PolyPhen-2 0.28
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available