P52A (p.Pro52Ala) variant of RIT1 (GTP-binding protein Rit1)
P52A (p.Pro52Ala) in RIT1 (GTP-binding protein Rit1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P52A (p.Pro52Ala) variant details
- p.Pro52Ala
- gnomAD 1-155910459-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.82
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available