R48* (p.Arg48Ter) variant of AGTRAP (Q6RW13)
R48* (p.Arg48Ter) in AGTRAP (Q6RW13) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R48* (p.Arg48Ter) variant details
- p.Arg48Ter
- rs762942626
- gnomAD 1-11746197-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0807
- CADD 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Literature evidence available