R31C (p.Arg31Cys) variant of ACAD9 (Q9H845)
R31C (p.Arg31Cys) 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; Inborn genetic diseases; Acyl-CoA dehydrogenase 9 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R31C (p.Arg31Cys) variant details
- p.Arg31Cys
- rs368630371
- ClinGen CA321091
- ClinVar RCV000196665
- ClinVar RCV001273322
- Uncertain significance
- not provided; Inborn genetic diseases; Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.42
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Acyl-CoA dehydrogenase 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)