Q30P (p.Gln30Pro) variant of ACADVL (P49748)
Q30P (p.Gln30Pro) in ACADVL (P49748) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Q30P (p.Gln30Pro) variant details
- p.Gln30Pro
- rs1001019087
- gnomAD 17-7217766-AGGCAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 26.50
- Population evidence available
- Structural context available
- Literature evidence available