R34P (p.Arg34Pro) variant of SPTA1 (P02549)
R34P (p.Arg34Pro) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The record also includes population frequency data.
R34P (p.Arg34Pro) variant details
- p.Arg34Pro
- rs567686069
- ClinGen CA343026807
- ClinVar RCV001001220
- ClinVar RCV001784536
- Conflicting interpretations
- not provided; not specified
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Likely pathogenic (in EL2)
- UniProt: Likely pathogenic (in EL2)
- Population evidence available