Q2L (p.Gln2Leu) variant of ACADVL (P49748)
Q2L (p.Gln2Leu) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q2L (p.Gln2Leu) variant details
- p.Gln2Leu
- gnomAD 17-7219989-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.41
- CADD 14.60
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available