L10S (p.Leu10Ser) variant of ACADVL (P49748)
L10S (p.Leu10Ser) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L10S (p.Leu10Ser) variant details
- p.Leu10Ser
- gnomAD 17-7217150-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 23.80
- Population evidence available
- Structural context available
- Literature evidence available