R16M (p.Arg16Met) variant of ACADVL (P49748)
R16M (p.Arg16Met) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R16M (p.Arg16Met) variant details
- p.Arg16Met
- gnomAD 17-7220031-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.52
- CADD 16.50
- PolyPhen-2 0.50
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available