G72D (p.Gly72Asp) variant of ETFA (P13804)
G72D (p.Gly72Asp) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Multiple acyl-CoA dehydrogenase deficienc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G72D (p.Gly72Asp) variant details
- p.Gly72Asp
- rs758004001
- ClinGen CA312483
- cosmic curated COSV51212
- ClinVar RCV000185866
- Uncertain significance
- Inborn genetic diseases; not provided; Multiple acyl-CoA dehydrogenase deficienc
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.36
- CADD 23.40
- PolyPhen-2 0.40
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Multiple acyl-CoA dehydro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00058)
- 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)