Q13H (p.Gln13His) variant of ACADVL (P49748)
Q13H (p.Gln13His) in ACADVL (P49748) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q13H (p.Gln13His) variant details
- p.Gln13His
- gnomAD rs1481490993
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.31
- CADD 15.70
- PolyPhen-2 0.56
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available