R27P (p.Arg27Pro) variant of ACAD9 (Q9H845)
R27P (p.Arg27Pro) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R27P (p.Arg27Pro) variant details
- p.Arg27Pro
- gnomAD 3-128879771-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.54
- MetaLR 0.77
- MetaSVM 0.10
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available