E53K (p.Glu53Lys) variant of ATP6V1A (P38606)
E53K (p.Glu53Lys) in ATP6V1A (P38606) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
E53K (p.Glu53Lys) variant details
- p.Glu53Lys
- rs2549717458
- ClinGen CA354005005
- ClinVar RCV003041111
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available