M38T (p.Met38Thr) variant of ETFB (P38117)
M38T (p.Met38Thr) in ETFB (P38117) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
M38T (p.Met38Thr) variant details
- p.Met38Thr
- rs775541180
- ClinGen CA9610862
- ClinVar RCV001362604
- ExAC rs775541180
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.83
- CADD 25.70
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)