M1T (p.Met1Thr) variant of ETFB (P38117)
M1T (p.Met1Thr) in ETFB (P38117) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs746888203
- ClinGen CA9610965
- ClinVar RCV002765576
- Conflicting interpretations
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- MetaLR 0.66
- MetaSVM 0.44
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 1.00
- ClinVar: Conflicting classifications of pathogenicity (Multiple acyl-CoA dehydrogenase deficiency)
- UniProt: Conflicting interpretations
- Population evidence available
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)