R98H (p.Arg98His) variant of ETFB (P38117)
R98H (p.Arg98His) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R98H (p.Arg98His) variant details
- p.Arg98His
- rs761063406
- ClinGen CA9610802
- cosmic curated COSV10809
- ClinVar RCV001979000
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.15
- CADD 9.93
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- 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)