K51I (p.Lys51Ile) variant of ACAD9 (Q9H845)
K51I (p.Lys51Ile) 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; Acyl-CoA dehydrogenase 9 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
K51I (p.Lys51Ile) variant details
- p.Lys51Ile
- rs149931573
- ClinGen CA320956
- ClinVar RCV000196533
- ClinVar RCV000259644
- Uncertain significance
- not provided; Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.62
- CADD 24.00
- PolyPhen-2 0.28
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.015)
- Structural context available