R12G (p.Arg12Gly) variant of ACADVL (P49748)
R12G (p.Arg12Gly) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R12G (p.Arg12Gly) variant details
- p.Arg12Gly
- rs1374847606
- gnomAD 17-7217721-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 3.9e-05)
- Structural context available
- Literature evidence available