Q2H (p.Gln2His) variant of ACADVL (P49748)
Q2H (p.Gln2His) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q2H (p.Gln2His) variant details
- p.Gln2His
- gnomAD 17-7219990-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.28
- CADD 18.60
- PolyPhen-2 0.33
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available