R76H (p.Arg76His) variant of ETFB (P38117)
R76H (p.Arg76His) in ETFB (P38117) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R76H (p.Arg76His) variant details
- p.Arg76His
- rs148567433
- ClinGen CA312504
- cosmic curated COSV58537
- ClinVar RCV000185879
- Uncertain significance
- Inborn genetic diseases; not provided; Multiple acyl-CoA dehydrogenase deficienc
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.87
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Multiple acyl-CoA dehydro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0014)
- 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)