Q30S (p.Gln30Ser) variant of ACADVL (P49748)
Q30S (p.Gln30Ser) in ACADVL (P49748) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q30S (p.Gln30Ser) variant details
- p.Gln30Ser
- gnomAD 17-7220142-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available