R32I (p.Arg32Ile) variant of ACADVL (P49748)
R32I (p.Arg32Ile) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R32I (p.Arg32Ile) variant details
- p.Arg32Ile
- gnomAD 17-7217779-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 24.10
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available