M62I (p.Met62Ile) variant of ETFDH (Q16134)
M62I (p.Met62Ile) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions, population frequency data, and structural context.
M62I (p.Met62Ile) variant details
- p.Met62Ile
- rs1185220863
- ClinGen CA358573775
- ClinVar RCV000497835
- ClinVar RCV001829416
- Uncertain significance
- not provided
- Missense
- MutPred 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available