R109L (p.Arg109Leu) variant of RRAD (GTP-binding protein RAD)
R109L (p.Arg109Leu) in RRAD (GTP-binding protein RAD) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R109L (p.Arg109Leu) variant details
- p.Arg109Leu
- rs576034385
- gnomAD 16-66921810-GGCCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 6.12
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available
- Literature evidence available