R16S (p.Arg16Ser) variant of ACADVL (P49748)
R16S (p.Arg16Ser) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R16S (p.Arg16Ser) variant details
- p.Arg16Ser
- gnomAD 17-7220032-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.55
- CADD 11.10
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available