Q13K (p.Gln13Lys) variant of ACADVL (P49748)
Q13K (p.Gln13Lys) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q13K (p.Gln13Lys) variant details
- p.Gln13Lys
- gnomAD 17-7220021-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.32
- CADD 18.10
- PolyPhen-2 0.20
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available