V123I (p.Val123Ile) variant of ETFA (P13804)
V123I (p.Val123Ile) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V123I (p.Val123Ile) variant details
- p.Val123Ile
- rs886051489
- ClinGen CA10642583
- ClinVar RCV000266331
- Ensembl rs886051489
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)