A78T (p.Ala78Thr) variant of ETFB (P38117)
A78T (p.Ala78Thr) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A78T (p.Ala78Thr) variant details
- p.Ala78Thr
- rs548046212
- ClinGen CA312506
- NCI-TCGA Cosmic COSV5853
- cosmic curated COSV58537
- Uncertain significance
- not specified; not provided; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.79
- CADD 25.30
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided; Multiple acyl-CoA dehydrogenase def)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)