G19C (p.Gly19Cys) variant of ACADVL (P49748)
G19C (p.Gly19Cys) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G19C (p.Gly19Cys) variant details
- p.Gly19Cys
- gnomAD 17-7220039-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.35
- CADD 3.57
- PolyPhen-2 0.11
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available