G56V (p.Gly56Val) variant of ANKRD1 (Q15327)
G56V (p.Gly56Val) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
G56V (p.Gly56Val) variant details
- p.Gly56Val
- rs2492962577
- ClinGen CA377553505
- ClinVar RCV002414530
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available