V5A (p.Val5Ala) variant of MMACHC (Q9Y4U1)
V5A (p.Val5Ala) in MMACHC (Q9Y4U1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- ExAC rs780981680
- TOPMed rs780981680
- gnomAD rs780981680
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available