R48R (p.Arg48Arg) variant of AXL (P30530)
R48R (p.Arg48Arg) in AXL (P30530) is a synonymous 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.
R48R (p.Arg48Arg) variant details
- p.Arg48Arg
- rs774132867
- gnomAD 19-41220692-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 10.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available