R60P (p.Arg60Pro) variant of SPTA1 (P02549)
R60P (p.Arg60Pro) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided.
R60P (p.Arg60Pro) variant details
- p.Arg60Pro
- rs750863150
- ClinGen CA343026555
- ClinVar RCV003138687
- ExAC rs750863150
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance