L88P (p.Leu88Pro) variant of ETFA (P13804)
L88P (p.Leu88Pro) 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; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L88P (p.Leu88Pro) variant details
- p.Leu88Pro
- rs1400343293
- ClinGen CA393517167
- ClinVar RCV001931176
- ClinVar RCV005331022
- Uncertain significance
- Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficie)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)