L154P (p.Leu154Pro) variant of ETFA (P13804)
L154P (p.Leu154Pro) in ETFA (P13804) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L154P (p.Leu154Pro) variant details
- p.Leu154Pro
- rs1286837897
- ClinGen CA393513893
- cosmic curated COSV51211
- ClinVar RCV001897174
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 26.30
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)