G20R (p.Gly20Arg) variant of ACADVL (P49748)
G20R (p.Gly20Arg) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- gnomAD 17-7220042-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.16
- CADD 9.03
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available