R5Q (p.Arg5Gln) variant of ACADVL (P49748)
R5Q (p.Arg5Gln) 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, published literature, and structural context.
R5Q (p.Arg5Gln) variant details
- p.Arg5Gln
- gnomAD 17-7219998-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.19
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available