L10P (p.Leu10Pro) variant of ACADVL (P49748)
L10P (p.Leu10Pro) in ACADVL (P49748) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L10P (p.Leu10Pro) variant details
- p.Leu10Pro
- gnomAD 17-7217150-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.675
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available