C4F (p.Cys4Phe) variant of ACAD9 (Q9H845)
C4F (p.Cys4Phe) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
C4F (p.Cys4Phe) variant details
- p.Cys4Phe
- rs863223872
- ClinGen CA325072
- ClinVar RCV000200488
- TOPMed rs863223872
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- AlphaMissense 0.06
- MetaLR 0.79
- MetaSVM -0.00
- PolyPhen-2 0.03
- SIFT 0.02
- MutPred 0.32
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available