T25R (p.Thr25Arg) variant of ACADVL (P49748)
T25R (p.Thr25Arg) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
T25R (p.Thr25Arg) variant details
- p.Thr25Arg
- gnomAD 17-7217803-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 14.80
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available