R15C (p.Arg15Cys) variant of ACAD9 (Q9H845)
R15C (p.Arg15Cys) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R15C (p.Arg15Cys) variant details
- p.Arg15Cys
- rs745759890
- ClinGen CA2601006
- ClinVar RCV001986815
- ExAC rs745759890
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.58
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available