T178R (p.Thr178Arg) variant of ETFA (P13804)
T178R (p.Thr178Arg) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
T178R (p.Thr178Arg) variant details
- p.Thr178Arg
- rs140169311
- ClinGen CA312477
- cosmic curated COSV51211
- ClinVar RCV000320514
- Conflicting interpretations
- not specified; not provided; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 21.10
- PolyPhen-2 0.28
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Multiple acyl-CoA dehydrogenase def)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.003)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)