L17R (p.Leu17Arg) variant of ACADVL (P49748)
L17R (p.Leu17Arg) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L17R (p.Leu17Arg) variant details
- p.Leu17Arg
- TOPMed rs2071110309
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.19
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available