R5R (p.Arg5Arg) variant of ITGB4 (Integrin beta-4)
R5R (p.Arg5Arg) in ITGB4 (Integrin beta-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R5R (p.Arg5Arg) variant details
- p.Arg5Arg
- rs775898450
- gnomAD 17-75724718-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 3.67
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available