G53A (p.Gly53Ala) variant of PKD1 (Polycystin-1)
G53A (p.Gly53Ala) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The record also includes structural context.
G53A (p.Gly53Ala) variant details
- p.Gly53Ala
- rs2544960223
- ClinGen CA394282380
- ClinVar RCV002284827
- Uncertain significance
- not specified; not provided
- Missense
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available