Q69R (p.Gln69Arg) variant of ACAD9 (Q9H845)
Q69R (p.Gln69Arg) 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 0.63 / 1. The record also includes population frequency data and structural context.
Q69R (p.Gln69Arg) variant details
- p.Gln69Arg
- rs752716687
- ClinGen CA2601070
- ClinVar RCV003427345
- ExAC rs752716687
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.76
- CADD 23.50
- PolyPhen-2 0.87
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available