Q2R (p.Gln2Arg) variant of ACADVL (P49748)
Q2R (p.Gln2Arg) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Q2R (p.Gln2Arg) variant details
- p.Gln2Arg
- gnomAD 17-7219989-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.20
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available