L28P (p.Leu28Pro) variant of ACADVL (P49748)
L28P (p.Leu28Pro) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L28P (p.Leu28Pro) variant details
- p.Leu28Pro
- gnomAD 17-7220142-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.48
- CADD 16.60
- PolyPhen-2 0.20
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available