P34R (p.Pro34Arg) variant of ACAD9 (Q9H845)
P34R (p.Pro34Arg) in ACAD9 (Q9H845) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P34R (p.Pro34Arg) variant details
- p.Pro34Arg
- TOPMed rs11542652
- gnomAD rs11542652
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.26
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available