M70K (p.Met70Lys) variant of SPTA1 (P02549)
M70K (p.Met70Lys) in SPTA1 (P02549) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance.
M70K (p.Met70Lys) variant details
- p.Met70Lys
- TOPMed rs1469938477
- gnomAD rs1469938477
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance