Q38K (p.Gln38Lys) variant of MYL2 (P10916)
Q38K (p.Gln38Lys) 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.
Q38K (p.Gln38Lys) variant details
- p.Gln38Lys
- rs2499811840
- ClinGen CA386699501
- ClinVar RCV002320490
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available