D52V (p.Asp52Val) variant of ETFDH (Q16134)
D52V (p.Asp52Val) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes structural context.
D52V (p.Asp52Val) variant details
- p.Asp52Val
- rs2479076325
- ClinGen CA358573544
- ClinVar RCV004527036
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available