N14H (p.Asn14His) variant of MYL2 (P10916)
N14H (p.Asn14His) in MYL2 (P10916) 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.
N14H (p.Asn14His) variant details
- p.Asn14His
- rs2499814987
- ClinGen CA386700306
- ClinVar RCV003311102
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available