L6P (p.Leu6Pro) variant of ACAD9 (Q9H845)
L6P (p.Leu6Pro) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- rs879173625
- ClinGen CA354429518
- ClinVar RCV003026162
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- AlphaMissense 0.07
- MetaLR 0.89
- MetaSVM 0.33
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.53
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available