M1T (p.Met1Thr) variant of ETFA (P13804)
M1T (p.Met1Thr) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Glutaric acidemia type 2A; ETFA-related disorders; not provided. 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
- rs727503918
- ClinGen CA295613
- ClinVar RCV000153198
- ClinVar RCV000324694
- Conflicting interpretations
- Glutaric acidemia type 2A; ETFA-related disorders; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.65
- MetaSVM 0.29
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Glutaric acidemia type 2A; ETFA-related disorders; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)