G472R (p.Gly472Arg) variant of ETFDH (Q16134)
G472R (p.Gly472Arg) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Glutaric acidemia type 2C; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G472R (p.Gly472Arg) variant details
- p.Gly472Arg
- rs746598421
- ClinGen CA3122617
- ClinVar RCV000554634
- ClinVar RCV001834766
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Glutaric acidemia type 2C; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Glutaric acidemia type 2C; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00023)
- 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)