L48V (p.Leu48Val) variant of ANKRD1 (Q15327)
L48V (p.Leu48Val) 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.
L48V (p.Leu48Val) variant details
- p.Leu48Val
- rs2492962665
- ClinGen CA377553667
- ClinVar RCV002392023
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available