I14L (p.Ile14Leu) variant of ETFB (P38117)
I14L (p.Ile14Leu) 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; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
I14L (p.Ile14Leu) variant details
- p.Ile14Leu
- rs148261223
- ClinGen CA9610957
- ClinVar RCV001944138
- ClinVar RCV002561431
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic diseases; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.63
- CADD 32.00
- PolyPhen-2 0.75
- SIFT 0.01
- 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 0.00038)
- 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)