P112R (p.Pro112Arg) variant of ANKRD1 (Q15327)
P112R (p.Pro112Arg) 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.
P112R (p.Pro112Arg) variant details
- p.Pro112Arg
- rs2492960991
- ClinGen CA377552416
- ClinVar RCV004107500
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available