P34L (p.Pro34Leu) variant of ACAD9 (Q9H845)
P34L (p.Pro34Leu) 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.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- TOPMed rs11542652
- gnomAD rs11542652
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.24
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available