R5R (p.Arg5Arg) variant of ACADVL (P49748)
R5R (p.Arg5Arg) in ACADVL (P49748) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R5R (p.Arg5Arg) variant details
- p.Arg5Arg
- gnomAD 17-7219997-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 12.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available