L127F (p.Leu127Phe) variant of ETFA (P13804)
L127F (p.Leu127Phe) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L127F (p.Leu127Phe) variant details
- p.Leu127Phe
- rs910012804
- ClinGen CA273698064
- ClinVar RCV001198108
- ClinVar RCV006650696
- Uncertain significance
- not provided; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.46
- CADD 26.90
- PolyPhen-2 0.71
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)