R12R (p.Arg12Arg) variant of ACADVL (P49748)
R12R (p.Arg12Arg) in ACADVL (P49748) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R12R (p.Arg12Arg) variant details
- p.Arg12Arg
- gnomAD 17-7217723-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 13.90
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available