Q30K (p.Gln30Lys) variant of ACADVL (P49748)
Q30K (p.Gln30Lys) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Q30K (p.Gln30Lys) variant details
- p.Gln30Lys
- gnomAD rs1292389593
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.26
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.36
- Population evidence available
- Structural context available