P55R (p.Pro55Arg) variant of ACAD9 (Q9H845)
P55R (p.Pro55Arg) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P55R (p.Pro55Arg) variant details
- p.Pro55Arg
- gnomAD 3-128884666-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.82
- MetaLR 0.95
- MetaSVM 1.08
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.78
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available